Uterine leiomyosarcomas are very rare and highly aggressive tumors that have a high rate of recurrence and poor prognosis, even when early diagnosed. Due to their relative rarity, there is limited research on optimal management strategies.A 60-year-old woman with a history of an asymptomatic uterine leiomyoma presented in October 2015 with postmenopausal bleeding and a friable vaginal cyst that bled when palpated. A partial cystectomy was performed, and malignant-like cystic and solid components were identified. Histopathology diagnosed an unclassifiable malignant epithelioid tumor. Subsequent imaging studies identified a malignant uterine tumor, a metabolically active vaginal lesion, and two benign leiomyomas. An anterior pelvic exenteration  were performed by laparotomy in March 2016. Examination of the surgical specimens identified a 75 × 75-mm leiomyoma, an 80 × 30-mm infiltrating mesenchymal uterine lesion with vascular invasion and tumor emboli, and a 60 × 30-mm perivascular vaginal tumor. Immunohistochemistry indicated a phenotypic transition from a uterine leiomyosarcoma to a vaginal epithelioid lesion; marker expression changed from the uterine tumor actin+/desmin+/caldesmon+/CD10− phenotype, through the tumor emboli, to an actin−/desmin−/caldesmon−/CD10+ phenotype in the vaginal lesion. A high-grade uterine mesenchymal tumor and vaginal metastasis were diagnosed. Adjuvant chemotherapy with docetaxel, gemcitabine, and doxorubicin commenced in May 2016 and treatment has been well tolerated.Differentiating leiomyosarcoma from leiomyoma is challenging and few tools other than microscopic evaluation are available. Vaginal compromise in leiomyosarcoma usually results from tumor extension, not hematogenous metastasis. A vaginal metastasis is a very rare initial presentation. We have found only two cases like this described on published literature. The atypical clinical and histological presentation in our case complicated diagnosis and delayed treatment. An early diagnosis and complete surgical clearance gives the best chance of survival, and imaging tools should be applied early in instances of new suspicious malignant lesions. Uterine sarcomas are rare malignant tumors that account for just 1% of gynecological cancers, and for 3%–7% of malignant diseases of the uterine corpus. Their rarity and histopathological diversity make it difficult to determine their real prevalence although it is estimated to be about 3 to 7 in 100,000. The median age at diagnosis varies depending on the histological subtype, but it most frequently is between 40 and 60 years with mean age at diagnosis of 55 years .According to the histological classification, mesenchymal malignant uterine tumors can be categorized into seven subtypes , 4. HoweUterine leiomyosarcomas are aggressive tumors and have a high rate of local recurrence, as high as 70%, even in early disease stages. The histopathological characteristics of uterine leiomyosarcomas enable early invasion and widespread metastases, particularly to the lungs, liver, abdomen, pelvis and pelvic and para-aortic lymph nodes , 6. VagiThe most distinctive histopathological characteristics of leiomyosarcomas are presence of coagulative tumour cell necrosis, cytological atypia, high mitotic rate and positive staining for muscle markers . Leiomyosarcomas should be differentiated from mitotically active or atypical leiomyomas and uterine smooth-muscle neoplasms with low malignant potential. Coagulative tumour-cell necrosis is decisive and should be distinguished from hyaline and ulcerative necrosis. Main differences between uterine sarcomas can be found on Table There is a consensus that uterine sarcoma treatment should be managed by an expert committee. Standard treatment for early stage uterine leiomyosarcomas is a simple hysterectomy with oophorectomy, without lymphadenectomy , 11; theWomen with intra abdominal involvement or distant metastases have a high risk of disease progression following surgery alone . As suchIn this article, we report the case of a woman that presented to the emergency department with a vaginal friable cyst. Subsequent investigations indicated that this was a single uterine leiomyosarcoma metastasis. The atypical presentation in this case complicated and delayed diagnosis and treatment initiation. We have found only two cases like this described on published literature , 14. On We present the case of a 60-year-old woman with a history of dyslipidemia, irritable bowel syndrome, and an asymptomatic uterine leiomyoma managed with clinical surveillance by general gynecology consultations. She had no prior history of surgery, and, apart from an aunt with postmenopausal breast cancer, had no family history of gynecological cancer. Her menarche was at 13 years and her menopause was at 50 years.The patient’s annual follow-up gynecology consultations for leiomyoma growth control had been normal until October 2015. At this time, she presented to the emergency department with postmenopausal bleeding and at physical examination a small friable vaginal cyst on the anterior vaginal wall that bled when touched was identified. The cyst appeared to be the cause of the patient’s postmenopausal bleeding, although postmenopausal uterine bleeding could not be completely excluded. A gynecological physical exam was not possible because the bleeding, size and location of the cyst. Following initial examination, the patient was referred to Cervical Pathology Consults for further evaluation.A pelvic examination performed as part of the cervical pathology consultation confirmed the presence of a 1.5 cm diameter cyst on the medial line of the anterior vaginal wall, 2–3 cm from the urethral meatus. Palpation of the cyst indicated that it was a rough, mobile, spherical mass with a distinct hardness and a friable surface that bled when touched. Surgical excision was recommended. In December 2015, a partial cystectomy was performed. Given the proximity of the cyst to the urethra, it was not possible to fully dissect its capsule and a complete cyst excision could not be achieved. During the intervention, the cyst ruptured and released cystic and solid components with malignant-like appearances.Histopathological examination indicated an epithelioid neoplastic proliferation, with anaplastic forms, nuclear pleomorphism, and a high mitotic rate, that had infiltrated the large vessels. Immunohistochemistry showed positive staining for vimentin and CD10, but no cytokeratin , hormone receptor (estrogen and progesterone), melanocyte marker , vascular marker , Fli- 1, CD45, PGM-1, or alpha-inhibin expression. The histopathological diagnosis was an unclassifiable malignant epithelioid tumor; carcinoma and melanoma were excluded by the immunochemical analysis.A cystoscopy and positron emission tomography-computed tomography (PET-CT) were performed to determine whether the urethra was affected. The cystoscopic findings were normal. PET-CT indicated a malignant tumor that affected the uterine lower posterior-lateral left wall and Douglas pouch. A second metabolically active pathological lesion, which was suggestive of malignancy, was identified on the posterior wall and upper uterine segment. There were no signs of lymphatic locoregional or distant disease Fig. . A 3D ulA transvaginal ultrasound demonstrated a 50-mm heterogeneous hyperechoic mass with undefined margins, which was similar to that observed with cervical neoplasms. The mass extended from the posterior cervical lip to the uterus. The presentation was atypical in that the mass was elongated in appearance. Two benign leiomyomas of 50-mm and 30-mm were also identified on the anterior uterine wall.A magnetic resonance imaging scan was subsequently performed. This showed the previously identified leiomyomas and a posterior right lateral 50 × 35.5 × 20-mm mass that overlapped the myometrium. The mass extended to the uterine isthmus cervical junction. No anomalies of the cervix or bladder wall and no locoregional disease, implants, ascites, or pelvic or inguinal adenopathies were identified , was proposed.Surgery was performed by laparotomy in March 2016. The immediate postoperative recovery was uneventful apart from anemia of 7.8 g/dL and oral candidiasis. 2 units of crossmatched compatible packed red blood cells and intravenous iron were transfused and an antifungal oral solution was prescribed. Surgical recovery was satisfactory and the patient was discharged on post-operative day 14 after being evaluated by the General Surgery, Urology, and Gynecology departments. Gross examination of the surgical specimen showed one 75 × 75-mm leiomyoma and two tumor lesions, one on the uterus and one at the vaginal level, with a leiomyosarcoma-compatible immunophenotype. The first tumor, which was 80 × 30 mm, was located on the posterior uterine aspect and extended from the uterine fundus to the lower segment, but it did not reach the cervix. It had completely infiltrated the myometrium, but not the uterine serosa  and coagulative tumor necrosis were also observed Fig. . CD34 anConsidering all of the findings, we diagnosed a uterine mesenchymal high grade tumor and a vaginal metastasis with an leiomyosarcoma-compatible immunophenotype.The case was presented at the Oncological Committee Meeting again and radiotherapy was rejected because of its low effectiveness in these cases. The patient was referred to a medical oncologist to commence adjuvant chemotherapy with docetaxel, gemcitabine, and doxorubicin, which was started in May 2016. In May 2016, the tumor markers, Ca125, Ca19.9, CEA, and Ca15.3, were all negative. A PET-CT scan performed on the same day showed no evidence of locoregional recurrence or distant metastasis.At the point of writing, no toxic side effects of chemotherapy have been observed and treatment is being well tolerated. Follow-up oncological gynecology consultations have been satisfactory with no signs of relapse, disease free for 12 months. The patient showed a good surgical recovery and had only minor complaints regarding vaginal dryness, which were treated with a topical moisturizer.Classically, leiomyosarcomas have been thought to be most common, and worthy of suspicion, in cases of rapidly growing leiomyomas or in patients who had previously received pelvic radiotherapy. However, recent studies have not upheld these assumptions , 5, 15.In the present case, the neoplasm had an atypical clinical and histological presentation. Clinically, the tumor was asymptomatic, with no signs of uterine compromise, and was only detected as a vaginal metastasis. Endometrial sarcomas most frequently present as abnormal uterine bleeding (70%–85% of cases), abnormal vaginal leucorrhea (10% of cases), or abdominal distention (8%–17% of cases). Excluding abnormal bleeding, findings in cases of leiomyosarcoma and leiomyoma –17. DistApproximately 80% of vaginal cancers are secondary metastatic tumors. These usually derive from cervical (51%) or endometrial 13.3%) primary tumors .3% prima, 18. OthWomen with leiomyosarcoma have a poor prognosis regardless of stage. In a large study of women with leiomyosarcoma that included 1396 patients, stratified by stage, the five-year disease specific overall survival for stage I, II, III, and IV disease was 76, 60, 45, and 29%, respectively. In our case, given that we found a vaginal metastasis, we faced a stage IV leiomyosarcoma .Most clinical guidelines  agree that uterine sarcomas should be managed with radical surgery . For women with extrauterine disease, a surgical approach is preferable if a complete resection is feasible. There is little information on management of metastasis on primary surgery as most studies focus on clinical practice on recurrence. Because most uterine leiomyosarcomas portend and aggressive growth, resection of metastasis will benefit only a highly selected group such as those with solitary metastasis –23, as i.In our case, the tumour was confined to the uterus and there was a single vaginal metastasis, making complete resection feasible. Although it is not the stablished procedure, we decided to perform an anterior pelvic exenteration due to the proximity of the tumor to the bladder . The surgical specimen included both the primary tumour and the metastasesAdjuvant chemotherapy with docetaxel, gemcitabine and doxorubicin was decided by the expert panel at our Oncological Committee Meeting. This treatment is in accordance with the most recently published research , 25. RadMesenchymal proliferations of the uterine body can be categorized into two groups: those with smooth muscle differentiation , and those with endometrial stromal differentiation . The presence of coagulative tumor cell necrosis, cytological atypia, a high mitotic rate, and positive staining for muscle markers  are diagnostic criteria for leiomyosarcoma. Intense staining for CD10 is usually associated with endometrial stromal sarcomas –11 and iImmunochemical marker expression changed from the uterine immunophenotype , through the tumor emboli, to the vaginal immunophenotype . Through the immunohistochemical analysis, one can observe the transition from the uterine to the vaginal lesion; acquiring a different immunophenotype, but remaining part of the same tumor , 30. FroNon coding RNAs are being linked more frequently to uterine sarcomas and practitioners should bear them in mind when facing an atypical histopathology.The atypical immunohistochemical analysis of the metastasis entangled a diagnosis at first, delaying treatment.Leiomyosarcomas are very rare tumors. They are typically diagnosed in peri- and post-menopausal women aged 51–56 years, but they can occur in adults of any age. The progression of leiomyosarcomas is rapid and aggressive, and they are associated with a high rate of local recurrence even when they are identified at an early stage. An early diagnosis and complete surgical clearance gives the best chance of survival; achieving this more frequently depends on further development of imaging techniques and the discovery of biochemical and molecular markers that can increase the preoperative detection of early stage disease.We believe that this case is relevant because of its extremely rare presentation and its unique histopathological staining. As previously stated, this staining is most probably associated to non-coding RNAs post-transcriptionally regulating gene expression in leiomyosarcomas and endometrial stromal sarcomas.Imaging for diagnosis and staging, and a second biopsy were key to reaching an initial diagnostic approach in our case. The final pathology report indicated an hematogenous spread of a uterine leiomyosarcoma, which had changed its immunophenotype through metastasis.When faced with new suspicious malignant vaginal lesions, diagnostic techniques should not be delayed. Although unlikely, metastasis of an aggressive, fast growing tumor with a poor prognosis, like a leiomyosarcoma, is possible.


Adrenal pseudocysts are rare entities and occurred in the 5th and the 6th decades of life. They are discovered accidentally, while appearing with nonspecific clinical and imaging findings. We report a case of a 28-year-old woman presented in our Emergency Department complaining about upper abdomen pain. Computed tomography revealed a hypodense cystic lesion containing hyperdense material. The size of a mass was 11. 7 × 9.3 × 6.6 cm in diameter close to the pancreas, but the origin was from the left adrenal gland. The mass was excised with surgical laparotomy. Giant adrenal pseudocysts are rare entities. Final diagnosis usually confirmed with the pathology examination. Management of such adrenal lesions depends on the unique characteristics, the surgeon's experience, and local resources. The Viennese anatomist Greiselius was the first who described in 1670 a ruptured adrenal cyst, filled with 12 pounds of fluid and 2 pounds of clot, as the cause of death in a 45-year-old nobleman . Most adEchinococcus species; true glandular or retention cysts; lymphangiectatic cysts or cystic hemangiomas, due to ectasia of preexisting vessels; and finally, pseudocysts [According to the Levison classification , which oudocysts . Nowadayudocysts . The pseudocysts . Cystic udocysts , 8. ImagA 28-year-old woman presented in the Emergency Department complaining about upper abdominal pain during the previous three days, without fever or anorexia, not related to food intake, and without bowel function abnormalities. Her surgical and clinical history was clear, and she had not noticed occurrence of the same symptoms before. During clinical examination, a palpable mass in the lower epigastric area was found, with focal tenderness.s), were within normal limits. During ultrasound examination of the abdomen, an anechoic lesion near the left kidney was revealed. The lesion contains echogenic mass and material consistent with a hemorrhagic cyst. Due to the location of the lesion, further imaging was carried out with CT and MRI. CT examination revealed a hypodense cystic lesion containing hyperdense material in close proximity with the left kidney and the tail of the pancreas, while T2-weighted sequences in MRI imaging with fat suppression showed high signal intensity within the mass. Areas of medium signal intensity with capsular enhancement of the lesion were also showed. Differential diagnosis was unclear, ranging between an adrenal lesion and a pancreatic lesion    . The medP=0.200) .Although pseudocysts represent the most frequently identified adrenal masses, endothelial cysts are found for up to 45% in autopsy series , 6, 8. TOrigins of adrenal pseudocysts still are a matter of debate. Some authors suggest that these lesions result from an intra-adrenal hemorrhage caused by trauma, a sepsis event, or any such systemic insult , 11. It Adrenal pseudocysts may also be functional, causing syndromes like adrenal hypofunction (Cushing's syndrome) , 15. PseThe most worrisome feature of adrenal cystic neoplasms, including the pseudocysts, is a reported incidence of malignancy estimated at 7% of the cases, especially if the pseudocyst's size exceeds 6 cm . An undeUS is usually the first imaging exam that may be employed for the evaluation of patients with a suspected adrenal mass, since it is a modality that has low cost and no exposure to radiation and allows for no confinement of claustrophobic or agitated patients. Nevertheless, the sensitivity of US for the detection of adrenal lesions is highly variable, with reported values from 66.7% to more than 90%, regardless of the lesion's size. Recently, contrast-enhanced US (CEUS), although not widely utilized, has also been added to the imaging armamentarium, as it has been reported to be able to detect or disprove the enhancement of the lesion's walls, thus accordingly pointing to a malignant or benign lesion .CT characteristics of the adrenal pseudocyst include a well-determinated cyst that does not enhance with intravenous contrast, while the density of the cyst's content measures at water density or much higher, depending on the amount of the encased hemorrhagic debris . AnotherMRI features of adrenal pseudocysts include a solid component with low intensity on both T1- and T2-weighted images and a second, smaller, fluid component. Complicated or hemorrhagic adrenal cysts may demonstrate variable signal intensity and may be difficult to differentiate from solid neoplasms. A limitation of MRI is, however, the poor sensitivity for detection of calcifications .131I-MIBG scintigraphy, may be used for the differentiation of an adrenal pseudocyst from a cystic pheochromocytoma, apart from the pertinent biochemical investigations, which should consist of a comprehensive preoperative hormonal and functional evaluation  [Nuclear medicine imaging, such as  levels) .The differential diagnosis of an adrenal pseudocyst essentially includes all the upper abdominal space-occupying lesions, such as splenic, hepatic, and renal cysts, as well as mesenteric or retroperitoneal cysts, urachal cysts, and solid adrenal tumours , 13, 16.In excised specimens, the exact nature will be determined also with the aid of immunochemistry, as the adrenal pseudocyst's wall will contain adrenal cortical tissues, confirmed by A103 (Melan-A). Furthermore, a strong expression of factor VIII-related antigen, laminin, and CD34 will be apparent, in the absence of epithelial membrane antigen or keratin expression, suggesting additionally a vascular origin of these lesions , 22.The treatment of choice for adrenal pseudocysts depends on several factors. According to the current treatment management, it is suggested that surgical excision should be done in all adrenal lesions > 5 cm, suspicious of malignancy, and functioning adrenal pseudocysts. However, it is recommended the excision of lesions even smaller, for example, 4 cm in size, if suspicious of malignancy. In lesions < 4 cm, a repeat CT scan 3 months later is usually advised, with a follow-up period at least for 18 months . LaparosAdrenal pseudocysts are rare lesions that may cause infrequent morbidity. Symptoms are usually atypical and depend on the pseudocyst size. Since the reported symptoms are vague due to the location of these lesions, a high suspicion index of the surgeon is required for the prompt diagnosis as well as suitable laboratory studies and imaging techniques. However, it has to be mentioned that the final diagnosis will be provided by pathology examination of the final specimen after the procedure. There are various ways that these cysts may be managed, which depend on the characteristics of the lesions, the surgeon's experience, and local resources, while the main treatment strategy remains the same in the last decade.


PDGFRA gene mutation in exon 2 (1837_1851 del) that was found in this case, as well as a highly infiltrative growth pattern, strongly supported the neoplastic nature of IFP.Morphologically, an inflammatory fibroid polyp (IFP) is usually centred in the submucosa. Extension of an IFP to the subserosa with destruction of the muscularis propria is exceedingly rare. Herein, we describe a 70-year-old woman who presented with right lower abdominal pain but was finally diagnosed with an IFP. Contrast-enhanced computed tomography revealed a target-like structure with a hypovascular mass at the leading edge, which was consistent with intussusception due to a tumour. Following surgery, the resected specimen displayed a mass measuring 4 × 3 × 3 cm that was protruding into the lumen. Microscopically, the mass was centred in the submucosa, extending up to the mucosal surface and down to the subserosa and serosa. The muscularis mucosae and muscularis propria were destroyed focally. A  IFPs ar in 1953 ; more reFRA gene . AlthougMorphologically, an IFP is centred in the submucosa and is composed of bland spindle cells with prominent vasculature; numerous eosinophils are also commonly observed . A uniquHerein we present a unusual case of an IFP of the ileum showing extension to the subserosa. The lesion was centred in the submucosa and it destroyed the muscularis propria. The IFP in this case extended as far as the serosa.A 70-year-old woman presented herself at our hospital with right lower abdominal pain. Physical examination revealed slight tenderness in the area; no other remarkable findings were observed. Laboratory tests showed no abnormal results. Following ultrasonography, contrast-enhanced computed tomography was conducted for a suspected intussusception. This revealed a target-like structure with a hypovascular mass present at the leading edge . It was The surgically resected specimen showed a mass protruding into the lumen, with surface ulceration in the ileum, which was centred in the submucosa and measured 4 × 3 × 3 cm. The cut surface was yellowish white with a myxoedematous texture, and showed infiltration into the muscularis propria, with probable subserosal extension .Histopathology revealed that the lesion was centred in the submucosa and showed transmural growth extending from the mucosal surface to the serosa. This extension into the mucosal surface accompanied destruction of the muscularis mucosae, and the surface was ulcerated . ExtensiUpon immunohistochemistry (IHC), lesional cells were positive for vimentin  and CD34  . Focal pPDGFRA gene was performed and it was found that deletion was present in exon 2 (1837_1851 del). This analysis was carried out in a commercial laboratory . The diagnosis of an IFP was thus confirmed, based on the morphology, the IHC results, and the mutational analysis of PDGFRA gene. The patient’s post-operative course was uneventful and she has been recurrence-free for 8 months.A mutational analysis of the When an IFP presents with typical morphological features such as 'onion skinning' and abundant eosinophils, it is not difficult to diagnose it based on morphology alone. Possible types of lesions included in the differential diagnosis are inflammatory pseudotumours, gastrointestinal stromal tumours (GISTs), and neurogenic tumours . IFPs haPDGFRA mutation has also been documented [A unique feature of IFPs, 'onion skinning' was observed in 54% (45 out of 83) of cases studied) and is thus not always a reliable diagnostic feature  and 86% cumented . In the PDGFRA was performed, because many IFPs are known to harbour activating mutations in exons 12, 14, or 18 of the PDGFRA [The transmural proliferation of the IFP with destruction of the muscularis propria extending to the serosa—as seen in this case—is an exceedingly rare observation. IFPs centred in the submucosa only rarely extend beyond the muscularis propria , and fewe PDGFRA . As was PDGFRA promotes uncontrolled proliferation of precursors of Cajal cells, leading to a neoplasm [There are several theories regarding the cellular origin of an IFP. These include a dendritic cell origin , a CD34-neoplasm , 9.In conclusion, this is an extremely rare case of an IFP of the ileum showing transmural proliferation. It was centred in the submucosa and extended to the serosa through the muscularis propria and subserosa with obvious destruction of the muscularis propria. Although 'onion skinning' was not observed, this case is different from an inflammatory pseudotumour, which is normally of a more infiltrative nature than IFP. In differentiating between these two lesions, the presence of many infiltrating eosinophils, along with the expression of CD34, supports the conclusion of an IFP diagnosis.Conflict of interest: none declared.


Two new cases of colorectal carcinoma in young adults born with ARM and a review of the literature is reported to emphasize the importance of a multidisciplinary follow-up.Anorectal malformation (ARM) is a rare congenital disorder of the anus and rectum. In the last 30 years virtually all patients born with ARM have survived and surgeons from adult care may be called to deal with new and long-term A man and a woman, with previous history of ARM, presented at 34 years of age with symptoms of intestinal occlusion and a large pelvic mass. Both patients had no familial history of colorectal carcinoma.The patients underwent biopsies  and stadiation (T4N0M0). In one case the microsatellite instability showed a stable profile. Despite maximal treatments, including surgery, chemo- and radio-therapy, they both died a few years after diagnosis for progression of disease.Case studies are too limited to suggest guidelines for prevention and treatment of such complications, but the life-long follow-up is mandatory in the framework of a well-established network between pediatric and adult surgeons. The risk of tumor development in these patients should not be neglected and colleagues from adult care should be aware of the possibility this occurs in their practice. Anorectal malformation (ARM) is a rare congenital disorder of the anal canal, rectum, and colon occurring in 1.33 to 4.93 per 10,000 births worldwide  represents the third most common cancer in men, with an incidence of 22 cases per 100,000/year, and the second in women, with an incidence of 15 cases per 100,000/year worldwide  at 27 years of age. Moreover, at 29 years of age, the patient had undergone open left adnexectomy for an ovarian cyst, which turned out to be an endometrial cyst.At presentation, pelvic US and abdominal CT showed the presence of a pelvic mass, that was considered as a relapse of endometriosis. Recto-sigmoidoscopy demonstrated, at 8 cm from anal verge, an ulcerated rectal mass of 4 cm in diameter, whose biopsies, however, were negative for malignancy. Via a laparotomy, 6 cm mass between rectum and uterus, corresponding to the ulcerated mass, adherent also to the presacral plain and vagina, was biopsied, and a diverting left colostomy created. At histology, a well-differentiated mucinous adenocarcinoma was diagnosed without evidence of tumor in the surrounding tissues. No metastases were detected at staging imaging. Therefore, the patient was staged as pT4 pN0 pM0 and started on neo-adjuvant chemotherapy with Folfox  for 9 months. In retrospect, the paraffin embedded specimens of the tumor, reviewed years later for this study, were not adequate for proper DNA extraction and microsatellite instability test was not possible.Three months after chemotherapy, the patient was re-admitted for intestinal occlusion. At CT scan a mass of 13 × 10 cm was detected. Resection of rectum, uterus, right ovary, vagina, vulva, and part of bladder and left ureter were performed, and a left ureteroneocistostomy performed. The post-operative course was complicated by perineal wound dehiscence, that required removal of the anograciloplasty and anal electro stimulator, and, later, by development of an urethral fistula that required placement of bilateral nephrostomies. The adjuvant therapy was not completed due to a series of septic events and 6 months later lung and para-aortic metastasis were detected. Chemotherapy with fluorouracil (5FU) and avastin was attempted until patient demise at age 36 years for disease progression.A 34-year old man presented to another hospital with persistent discharge of brownish gelatinous material with urine, constipation and soiling lasting from 6 months. The patient, without family history of cancer, was born with a recto-prostatic fistula and underwent staged repair of ARM. Because of extended colic resection and the anorectal malformation the patient never reached a satisfactory fecal continence and was on a bowel management program including daily enemas of 300 cc of water and 100 cc of glycerin.At rectal examination, a mass was palpable and an US revealed a 10 cm pelvic mass behind the bladder. At MRI, a huge cystic mass between the prostatic urethra and rectum was detected and the patient was referred to our centre Fig. . A few mOne year later, as bouts of urinary tract infections occurred, another rectoscopy was performed that showed a granulomatous nodule on the anterior rectal wall. Pathology was a villous adenoma with high-grade dysplasia. An abdomino-pelvic MRI Fig. a, b reveThe patient (now 37 years old) underwent Hartmann operation and closure of previous ileostomy. At surgery the mass appeared mainly extraluminal, contained in a sort of thin rectal wall pseudodiverticulum and, at pathology, resulted a mucinous adenocarcinoma of large intestine pT4 pN0 pM0. All biopsies of resection margins were negative for malignancy. Microsatellite instability was investigated using standard Bethesda microsatellites panel .Nonetheless, 21 months after last intervention, perineal neoplastic ulcer and lung metastases occurred and the patient died at 41 years of age for progression of disease.We report two cases of rectal adenocarcinoma aroused in young adulthood in patients born with anorectal malformation. The patients, a male and a female, were both 34 years old at onset of symptoms and none of them had family history of CRC. Both presented with a large pelvic mass, that resulted to be a mucinous rectal adenocarcinoma, and were treated with surgical and chemo-radio therapy but they died for progression of disease a few years after diagnosis. Because of the young age at diagnosis and tumor histotype, the mismatch repair deficiency was investigated by mean of microsatellite instability, resulting in a non-informative test (case 1) and in a negative test (case 2).Adenocarcinoma of the rectum rarely occurs in patients younger than 30 years; at this age, it represents 2.1 % of all malignancies  secreted by overactive neoplastic acinar cells   and a preventive program for colorectal cancer. The risk of tumor development in these patients should not be neglected and colleagues from adult care should be aware of the possibility this occurs in their practice.


Poroma is a rare benign neoplasm that derives from eccrine sweat glands epithelium. Its histological subtypes, with respect to its position within skin layers, are eccrine poroma, hidroacanthoma simplex, poroid hidradenoma, and dermal duct tumor. Poromas commonly exhibit benign clinical behavior as they are usually small and asymptomatic and do not exhibit malignant behavior. Although their histological subtypes share similar histological characteristics, they rarely coexist in the same tumor. In this report we present the case of an unusual poroma in terms of histological and clinical behavior as it was large and presented histological characteristic of both eccrine poroma and poroid hidradenoma. Coexistence of different histologic subtypes in the same tumor indicates simultaneous tumorigenesis, differentiation from one cell type to another, or parallel differentiation from a common progenitor cell. Implications in treatment remain unknown partly due to the rarity of such cases. Poromas are rare neoplasms, derived from eccrine sweat glands epithelium. They share similar histological and cellular characteristics as monomorphic character of tumor cells, ductal differentiation, and necrosis “en masse.” Poromas are subclassified as eccrine poroma (EP), hidroacanthoma simplex (HS), poroid hidradenoma (PH), and dermal duct tumor (DDT) . When thWe present the case of a 79-year-old man with a large (maximum diameter: 4 cm) skin tumor in the right lumbar area. Patient first noted its existence about 8 years ago. The tumor was painless, gradually enlarging, and otherwise asymptomatic. Macroscopically the tumor was pediculated, had about 4 cm maximum diameter, and was attached to the right lumbar area with a 2 cm stem . No deepHistological examination showed a poroma of mixed eccrine poroma and poroid hidradenoma subtypes. Subclassification of poroma types in eccrine poroma and poroid hidradenoma was with respect to their position in dermis layer. Tumor's architecture was lobular with areas of focal necroses and no signs of malignancy . StaininThe term poroma refers to a group of benign adnexal neoplasms that exhibit tubular or distal ductal differentiation. Firstly described by Pinkus et al.  in 1956,Poromas are considered historically as neoplasms of eccrine lineage but later studies suggested that poromas can be of either eccrine or apocrine lineage . These tTheir etiology is still undefined but inflammation and tissue regeneration might play a role as they are mainly associated with older trauma in the area, scarring, exposure to radiation , and immIt is uncommon for two subtypes of poroma to coexist in a single lesion . On the Description of this case provides insight into tumorigenesis cases in these adnexal neoplasms. Coexistence of two different tumor subtypes in a single lesion is rare yet possible and undermines late differences in carcinogenesis paths. Although surgical treatment would not change, clinicians should be prepared for such rare cases and if necessary seek advice on their proper management as further treatment decisions should be taken in an individualized manner. Even more knowledge of tumorigenesis is often provided from such rare and unexpected cases.


Colorectal carcinoma is a common malignancy in India as well as in world. Inspite of its high metastasizing ability to various organs and lymph node, orbital metastasis is exceptional. Very few cases have been reported in the world literature. We report orbital metastasis in a case of moderately differentiated rectal adenocarcinoma in a 58-year male patient from India in 2015. We want to focus on the rare metastatic pathway of rectal adenocarcinoma and early diagnosis of the orbital metastasis, which can help in application of therapy to save the eyesight.  Colorectal carcinoma is a common malignancy in India as well as in the world . About 2Here we report unilateral orbital and brain metastases in a case of moderately differentiated adenocarcinoma of rectum in an elderly male from tribal region of eastern India.A A 62-year male patient from tribal region in West Bengal, India was attended to Surgery Out Patient Department in 2015 with complaints of irregular bowel habit and occasional rectal bleeding for last two months. He had average built and had a history of weight loss. Rectal examination revealed an elevated irregular mass at posterior part of rectum. Ultrasound and CT scan of abdomen and pelvis were done and revealed a circumscribed solid hypodense mass at rectum without any adhesion or extension to other pelvic organs. Ultrasound showed multiple nodular hypodense spaces occupying lesion of the liver, suggestive of metastases.He was subsequently undergone colonoscopy and biopsy from the lesion after taking informed consent. On colonoscopy, there was an elevated irregular rectal mass 3.5 cm above the anal verge. Histopathology showed irregular distorted glands lined by highly dysplastic glandular cells with severe atypia and mitosis. A biopsy was reported as moderately differentiated adenocarcinoma of rectum . As it wOther biochemical and hematological tests revealed only significant anemia (hemoglobin-7.8gm/dl). Chest X-ray did not reveal any sign of metastatic lesion. He was planned for surgery and further management. In the meanwhile he developed pain, gradual dimness of vision and swelling of left eyeball (proptosis). He was referred for ophthalmologic examination.On ophthalmologic examination, he had proptosis of left eye, restriction of lateral and upper gazes . He had He was further treated with adjuvant whole brain radiotherapy (30 Gy) and chemotherapy (5FU). After second cycle, he developed severe thrombocytopenia, febrile neutropenia and died after four daysdespite the best supportive careMetastatic orbital tumors are very rare accounting 2%-7% of orbital tumors in different series . Most ofth of the cases have distant metastasis at diagnosis and other 30% develop metastasis during disease progression (Colorectal carcinoma is very common malignancy in India as well as in South East Asia. About 1/5gression . In our Most of the previous cases of orbital metastasis from rectal carcinomas have been developed during disease progression except in one case where primary malignancy was diagnosed after the onset of visual disturbance ,6. In ouTheoretically, orbital metastasis from rectal adenocarcinoma occurs through two possible pathways. It can spread “through middle or inferior haemorrhoidal veins and followed by inferior vena cava, pulmonary circulation, carotid arteries and ophthalmic arteries” . AnotherMost of the previous cases of ocular metastasis from rectal adenocarcinoma, also, exhibit other systemic metastases due to long pathway of systemic circulation . In thisOrbital metastasis from rectal adenocarcinoma is very rare. We want to focus on the rare metastatic pathway of rectal adenocarcinoma because early diagnosis can help in application of therapy to save the eyesight. The authors declare that there is no Conflict of Interests.


Synovial sarcoma is a rare malignant tumor of mesenchymal origin. Primary synovial sarcoma of the ear is extremely rare and to date only two cases have been published in English medical literature. Though the tumor is reported to have an aggressive nature, early diagnosis and treatment may improve the outcome. Here, we report a rare case of synovial sarcoma of the external auditory canal in an 18-year-old male who was managed by chemotherapy and referred for palliation due to tumor progression. Synovial sarcoma is a malignant tumor of mesenchymal origin with a male to female ratio of 3:2. It occurs most commonly in extremities. Its occurrence in the head and neck region is reported to be uncommon . JernstrAn 18-year-old male was referred to the department of radiation oncology with a one-year history of painless progressive swelling over the left pinna. Initial evaluation and excision biopsy from the lesion reported a nonspecific chronic inflammatory lesion with ulceration and granulation tissue formation. The swelling gradually increased in size with associated difficulty in hearing and breathing. A physical examination revealed a proliferative lesion with ulceration filling the external auditory canal  of the temporal bone showed a space-occupying lesion measuring 2.4 x 2.1 x 3.4 cm with an ill-defined margin at the left post-auricular region. The lesion was seen extending anteriorly to the base of the pinna and anteromedially to the external auditory canal as well as anteroinferiorly to the left parotid space with minimal erosion of the external auditory canal  showed cytokeratin (CK), epithelial membrane antigen (EMA), vimentin and CD99 strongly positive, smooth muscle antigen (SMA), CD31 and CD34 negative. A CT-guided biopsy from the lung lesion was also consistent with metastatic deposits from synovial sarcoma. A tumor board was conducted, which concluded that the tumor was inoperable and metastatic and that chemotherapy would be the best option. A chemotherapy schedule consisting of doxorubicin (60 mg/m2 day 1) and ifosfamide (1.5 g/m2 day 1-3) regimen was initiated. A reassessment after three cycles showed disease progression. As the general condition of the patient deteriorated, the tumor board reviewed that the patient could not be taken up for any furthur oncological intervention. The best palliative care was given and the patient expired after two months.It is estimated that synovial sarcoma accounts for 8-10% of all soft tissue sarcoma. However, synovial sarcoma of the ear is an extremely rare entity. To the best of our knowledge, only one case of primary synovial sarcoma of the middle ear  and one In suspected cases, it is essential to consider a CT of the head and neck and a CT of the thorax to define tumor extension and metastasis. Immunohistochemistry studies showed the tumor to be of mesenchymal origin, demonstrating a positive immunoreaction for the epithelial markers, epithelial membrane antigen (EMA) and cytokeratin (CK).Several factors are reported to determine the prognosis of the tumor of the inner ear. The tumor size and local extent at the time of primary treatment have been found to have an inverse relation to survival. Most metastases originate from hematogenous dissemination and is the most common cause of death .The mainstay of treatment is surgical resection of the primary tumor with negative margin, which is difficult to achieve in the head and neck region. Surgical resection is followed by up to 90% recurrence rate within two years . The stuSynovial sarcoma of the ear is an extremely rare tumor. Though the tumor has an aggressive nature and poor prognosis, early diagnosis and treatment may improve the outcome and survival. Hence, it is essential that oncologists, otolaryngologists and head and neck surgeons be aware of this rare presentation and take up a multidisciplinary approach toward its management.


Follicular nodular hyperplasia (FNH) is a common benign liver tumor for which conservative management is indicated. Surgical or interventional management is indicated in symptomatic cases. Transarterial embolization (TAE) has been extensively used to manage unresectable liver tumors. Sublimation describes a change of physical state from solid to gas. Hepatic tissue sublimation following TAE has so far not been reported in medical literature.A 30 year - old male patient presenting with pain to the upper abdomen due to a large FNH was managed with TAE. Routine radiographic control on post-intervention day one was within normal limits. Imaging due to right upper quadrant pain with fever and elevated inflammatory markers and liver enzymes on day two after TAE revealed a marked reduction of the FNH accompanied by the presence of a large volume of gas collection without signs of abscess formation. This change of state from solid to gas without sign of abscess formation within 2 days after TAE was described as hepatic tissue sublimation. The patient was managed conservatively and discharge 12 days after TAE.Tissue sublimation has hardly been reported in medical literature. This to the best of our knowledge is the first documented case of hepatic tissue sublimation following TAE. Follicular nodular hyperplasia (FNH) , 2 is a Besides surgical resection, less invasive interventional techniques have been used to manage liver tumors . A majorA 30 year-old male patient was referred to our tertiary surgical department with progressive pain to the upper abdomen. A hepatic mass was diagnosed 9 months previously. Fine needle biopsy confirmed the mass to be an FNH. At that time “watchful waiting” was recommended. A mass could be palpated in the right upper quadrant during physical examination. Blood chemistry including liver enzymes were within normal limits. A large mass was seen in the right liver lobe during ultrasound (US) . MagnetiFollicular nodular hyperplasia is estimated to constitute close to 8% of all primary hepatic masses and is the second most common benign liver neoplasm after hemangioma . FNH occIn most cases, FNH is clinical silent and is usually diagnosed incidentally during routine abdominal ultrasound. However, clinical symptoms, mostly mild pain or discomfort in the upper abdomen as well as a palpable abdominal mass might be present. The diagnosis is usually suspected following abdominal imaging via US, CT or MRI , 10–12. Considering the benign natural history of FNH with rare acute complications and lack of malignant potential, asymptomatic cases should be conservatively managed. Surgical resection or interventional management should therefore be reserved for cases with doubtful histology or persistent symptomatic , 15.Transarterial embolization is a well-established procedure in the management of hepatic lesions. TAE was initially used by Doyon and colleagues to manage hepatocellular carcinoma in 1974 . NowadayThe 30 year - old patient presented with upper abdominal pain due to a rapid progressing mass in the right liver lobe. Fine needle biopsy had confirmed the mass to be an FNH. The risk of morbidity following surgical resection was deemed very high for this benign lesion. Thus TAE was favored. This was performed without any peri-procedural complications. Routine ct control on post-interventional day one was within normal limits. Pain to the right upper quadrant with fever and elevated inflammatory markers and liver enzymes prompted imaging via US and ct on day two following TAE. A reduction of the follicular nodular hyperplastic mass was documented on ct scan. Besides, a large gas collection without abscess formation was also seen on ct. The lack of abscess as a possible source of the gas raises the question if sublimation of hepatic tissue had occurred following TAE.The patient was managed conservatively with intravenous broadband antibiotics, bowel rest and pain medication and was closely monitored with serial ultrasound, blood chemistry and physical examination. No invasive or interventional treatment was warranted due to prompt symptom relief and normalization of both inflammatory markers and hepatic enzymes.An alternative management could have been surgery or interventional placement of a drain into the gas formation. These options were quickly discarded due to the benign course of this complication. Besides, both alternatives would have created a communication between a potentially aseptic intrahepatic milieu and a septic extra-peritoneal environment thereby increasing the risk of infectious and septic complications.The mechanism behind this change of state is yet to be understood. The fact that TAE was performed with standardized dosage virtually excludes a dose-dependent complication. Equally, a direct procedure-related explanation for this phenomenon could not be provided.Gas collection as a sign of abscess formation could have explained this finding. This thesis was improbably for two reasons: first the early onset of gas formation (2 days post TAE) and second the lack of fluid collection (abscess) at TAE site argue against this thesis. However, the good response to broadband antibiotics might argue for an optimally controlled bacterial superinfection by gas building bacteria.The symptoms: pain to the right upper quadrant, elevated liver enzymes, elevated inflammatory markers in blood and fever leading to imaging on day two after TAE are typical for acute cholecystitis. An alluring hypothesis in this situation would see acute cholecystitis as a sequela of TAE due to the close proximity of the gallbladder to the FNH. This being the case, it remains questionable if this complication would have been discovered in the absence of these symptoms. Nevertheless, the question remains whether or not the symptoms and changes in blood chemistry could have been secondary to TAE or both.The patient was discharged 12 days after TAE. Follow-up continued at our out-patient services. The gas was completed resorbed in the course of follow – up within 3 weeks. Cholecystectomy was performed 6 weeks after TAE.Tissue sublimation following TAE has hardly been reported in medical literature. Conservative management with pain medication, bowel resting and broadband antibiotics constitute first line treatment. Surgical or interventional management should be reserved for complicated cases.


Correct and rapid diagnosis of skin tumours often requires biopsy and histopathological examination to differentiate benign lesions such as seborrhoeic keratoses or melanocytic naevi from premalignant and malignant lesions such as malignant melanoma. Particularly, to the untrained eye, any benign skin tumour—pigmented or nonpigmented—is easily mistaken for a malignant lesion. Qualified clinical evaluation is paramount in order to reduce the frequency of unwarranted skin biopsies. Herein, the most common benign, premalignant, and malignant vulvar skin tumours are reviewed. A variety of vulvar tumours are seen in daily clinical practice and the vast majority are benign. However, correct and rapid diagnosis often requires biopsy and histopathological examination in order to differentiate benign lesions such as seborrhoeic keratoses or melanocytic naevi from premalignant and malignant lesions such as malignant melanoma. Herein, we review the most common benign, premalignant, and malignant vulvar skin tumours.Multiple squamous papillae of the vulva are a benign normal variant of the vestibule in young women often mistaken for disseminated genital warts. Wart remedies such as podophyllotoxin and imiquimod, cryotherapy, and laser surgery may have been applied without benefit. The condition is asymptomatic and previous reports of vulvar squamous papillomatosis as a cause of concomitant pruritus and vulvodynia/vestibulodynia have not been substantiated , 2. The A seborrhoeic keratosis is a common benign keratinocyte neoplasm that in elderly women may be located in the vulvar area. The tumour is brown-black , sharply delineated, smooth or verrucous, oval or round with a greasy texture, located on the keratinised skin in the vulvar area . IntenseEpidermoid cysts (atheromas) are 5–10 mm, smooth, dome-shaped, yellow-white lesions located on labia majora and around the clitoris in middle-aged and elderly women . RuptureSebaceous cysts are caused by blocking of the duct of the multiple sebaceous glands of the hair-bearing surface of the vulva. Sebaceous retention cysts are usually asymptomatic small dome-shaped lesions with a translucent or yellowish colour that may contain a greasy yellow-white material  6]. Occ. Occ6]. Bartholin's glands located bilaterally at the posterior introitus drain through ducts that empty into the vestibule at the 4 and 8 o'clock positions and moisten the vulvar area. If the duct is obstructed, it may result in a unilateral painless small cystic swelling and palpable mass in the posterior commissure , 10. SmaMultiple mucinous glands of urogenital sinus origin are present during the development of the vulva. Small cysts may arise as a result of obstruction of the neck of these glands resulting in mucinous cysts located in the vulvar vestibule , 12. A lMesonephric cysts, also termed Gardner's duct cysts, are located on the lateral aspects of the vulva and develop from mesonephric remnants . The epiMilia are minute superficial epidermoid cysts lined with epidermis and filled with keratin that are thought to result from pilosebaceous or eccrine sweat duct plugging. Milia may be primary or secondary, the latter resulting from injury to the skin. Mila are 1-2 mm, white, domed-shaped papules usually located at the cheeks and eyelids of adults, but milia may also affect the vulvar area , 16. DueInfantile capillary and cavernous haemangiomas are common lesions in newborns and may arise at any cutaneous site including the vulvar area. The lesion is a flat erythematous plaque that over months progresses to a nodular vascular tumour . Haemang2, or dye laser therapy.A pyogenic granuloma is common benign vascular proliferation of the skin and mucous membranes that occasionally is located in the vulvar area , 22. MinAngiokeratomas are vascular tumours consisting of numerous ectatic blood vessels in the superficial dermis. Angiokeratomas are seen in middle-aged and older women presenting with multiple asymptomatic erythematous or purple papules in the vulvar area  24, 25], 2524, 2Primary lymphangiomas or lymphangiomata circumscripta are rare, usually congenital lymphatic malformations diagnosed during infancy, whereas secondary or acquired lymphangiomas arise in adulthood as sequelae to surgery, radiotherapy, or other traumatising events. A vulvar lesion is characterised by frog egg-like confluent grouped thin-walled vesicles filled with serosanguineous fluid  27]. Hi. Hi27]. 2 laser may be effective [A syringoma is a common tumour of eccrine sweat glands usually located on the lower eyelids, neck, chest, axillae, and genital area, including the vulva . They emffective .Schwannomas or neuromas are benign encapsulated nerve sheath neoplasms that occasionally may be located in the vulvar area in adults . The cliA leiomyoma is a rare benign neoplasm in adults derived from labial muscle presenting as a solitary flesh-coloured or reddish-brown, occasionally painful, nodule. The lesions range in size from a few mm to 1 cm . HistopaLipomas are common soft tissue tumours that can be located anywhere on the body, including the vulvar area . Vulvar Hidradenoma papilliferum is an uncommon benign cutaneous adnexal tumour arising from apocrine sweat glands with predilection to the vulvar area in middle-aged women , 36. It The vulva is an uncommon site for endometriosis; however, the diagnosis should be considered in women with a persistent tender erythematous-bluish nodule usually located at the labia majora , 38. It Vulvar melanosis or vulvar lentiginosis, also referred to as lentigo simplex, is the most common pigmented lesion in adult women, representing approximately 70% of all pigmented vulvar lesions , 40. TheVulvar melanocytic naevi are seen in approximately 2% of adult premenopausal women and account for 23% of all pigmented lesions in this area , 40. A sVulvar intraepithelial neoplasia (VIN) is a high-grade intraepithelial precursor of invasive squamous cell carcinoma. Two different types of VIN have been defined: the common human papilloma virus (HPV) related type and the differentiated non-HPV-related type, the latter being associated with vulvar dermatoses, especially lichen sclerosus . HPV-rel2-laser ablation, photodynamic therapy, or topical treatment with imiquimod, 5-fluorouracil, or cidofovir [The diagnosis should be confirmed by histopathology showing moderate to severe intraepithelial dysplasia; in the differentiated type of VIN, there are concomitant signs of lichen sclerosus or lichen simplex. Therapies of HPV-related VIN include surgical excision, COidofovir , 52–54. idofovir . In geneHPV-related VIN due to HPV 16 and HPV 18 may be prevented by vaccination with the 4- or 2-valent vaccines . A newlyApproximately 95% of malignant tumours of the vulva are squamous cell carcinoma (SCC), however only representing 5–10% of all gynaecological cancers . ChronicBefore therapy, the vulvar SCC should be staged according to the TNM system with extent of the carcinoma (T), whether the carcinoma has spread to lymph nodes (N) and whether it has spread to distant sites (M) . In stagLocal advanced disease with vaginal, urethral, or anal involvement can be treated with surgery combined with radiation therapy. The 5-year survival in women with radically excised local disease is 90%, but in case of metastases to regional lymph nodes survival decreases to 50% . In nodaBasal cell carcinoma (BCC) is a common malignant tumour in elderly women usually located in UV exposed areas, but occasionally lesions occur in the vulvar area where it constitutes 2-3% of all vulvar cancers , 66. HPVVulvar melanoma accounts for approximately 10% of all vulvar malignancies only exceeded by SCC . An epidAlthough the vulva is the commonest site of extramammary Paget's disease, it only comprises 1-2% of vulvar malignancies . Vulvar A variety of rare malignant tumours may arise in the vulvar area, many with a common clinical picture of a growing nodular lesion, which include sarcomas  –81, aden


Plasmablastic lymphoma (PBL) is a rare B-cell lymphoma occurring mainly in HIV patients. The tumor frequently involves extranodal sites such as the oral cavity, nasal cavity, gastrointestinal tract, skin, and lungs. The neoplastic cells are characterized by a plasmablastic appearance and typical immunophenotype that indicates plasma cell differentiation. Herein, we report a case of intraocular involvement by plasmablastic lymphoma in a HIV patient with a long history of cytomegalovirus retinitis and loss of vision. After an evisceration performed to control the blind, painful eye a diagnosis of PBL was made by examining the eye contents. Two months later, a biopsy of cervical lymph node revealed nodal lymphoma of the same type. To the best of our knowledge, this is the second case of intraocular PBL reported in English literature. MYC dysregulation mediated by translocation or amplification [PBL was first described by Delecluse et al.  in 1997,fication  could alPrimary intraocular lymphoma (PIOL) is a variant of primary central nervous system lymphoma in which lymphoma cells are initially present only in the eyes without evidence of disease in the brain or cerebrospinal fluid . AlthougSecondary intraocular lymphoma arises outside the central nervous system and metastasizes to the eye. Most of them involve the uveal tract and DLBL is also the most frequent histologic subtype .The aim of this study is to report a case of secondary intraocular PBL in a HIV patient.A 38-year-old patient was admitted at the oculoplastic service complaining of a blind, painful eye. On physical examination, there was no light perception in the right eye (OD) and normal vision acuity (20/20) in the left eye (OS). Biomicroscopy disclosed a scleral perforation in OD with loss of uveal tissue. The patient was a known case of HIV infection who was undergoing highly active antiretroviral therapy (HAART). One year and a half before consultation he complained of loss of vision in OD. At that time ocular fundus examination showed diffuse retinitis diagnosed as cytomegalovirus infection and treated with ganciclovir.Due to the painful blind eye the patient underwent evisceration of the affected eye.The microscopic examination of the eye contents revealed a diffuse lymphoid tumor infiltrating the choroid and totally replacing the retina  with plaThe immunohistochemistry study showed positivity of the neoplastic cells for CD38, CD138 , BOB-1, 3 and 82 HIV copies/ml .By the time of the evisceration, blood sample examination showed a CD4 T-cell count of 325 cells/mmShortly after the diagnosis the patient complained of cervical nodule and a biopsy revealed PBL in lymph node.The patient was treated with chemotherapy but the lymphoma relapsed 2 years later and the patient died of bacterial pneumonia.Intraocular lymphomas can occur as primary or secondary lesions. The secondary lesions usually involve the uveal tract, mainly the choroid. A recent study of a large series of choroidal lymphomas showed that 31% of the patients with choroidal lymphoid lesions had known systemic lymphoma at initial presentation or were diagnosed with systemic lymphoma shortly after the initial presentation . This stInvolvement of ocular adnexa by PBL, although rare, has been more frequently reported when compared to intraocular lesions. A few cases of PBL have been reported involving the orbit , 9. MostAt the time of diagnosis our patient was 38 years old. This is in accordance with the study published by Castillo et al. [3  and the median viral load at presentation was 261,560 copies/mL  [The pathogenesis of PBL is poorly understood and complex and many factors such as HIV-related immunodeficiency, genetic cellular abnormalities, coinfecting oncogenic viruses, and chronic immune activation, including CMV infection, play significant roles . In a stpies/mL) . Both thpies/mL) , 11.In our case, even though the initial diagnosis was made by examining the eye tissues, it represents a secondary involvement of the eye since systemic lymphoma was diagnosed shortly after. As far as we know, this is the second case of intraocular involvement by PBL reported in English literature.


BRAFV600E mutation have been reported, but this finding has not been confirmed in all studies.Histiocytic sarcoma is a rare histiocytic neoplasm of unknown etiology that constitutes less than 1% of hematologic malignancies. A few cases of histiocytic sarcoma harboring the V600E protein using immunohistochemistry. Before treatment of her histiocytic sarcoma could be initiated, she developed disseminated intravascular coagulation and acute hypoxemic respiratory failure secondary to non-cardiogenic pulmonary edema. She decided to pursue comfort care and died in our hospital 2 weeks following admission.We report the case of a 63-year-old white woman with a history of splenic marginal zone lymphoma who presented with 2 weeks of right-sided neck swelling. Positron emission tomography revealed an intensely hypermetabolic and destructive soft tissue mass in her right skull base. A bone marrow biopsy was performed, which revealed an infiltrate of malignant cells characterized as large pleomorphic cells with frequent folded/irregular nuclei, variably prominent nucleoli, fine chromatin, and abundant amounts of eosinophilic cytoplasm. The malignant cells were positive for CD163, CD68 (granular), lysozyme (granular), CD4, and CD45 . Based on the biopsy findings, she was diagnosed as having histiocytic sarcoma. The malignant cells tested positive for the BRAFBRAFV600E mutation. Further research is needed to clarify the role of targeted therapies such as vemurafenib in the treatment of patients with this disorder.Our case illustrates the aggressive nature of histiocytic sarcoma, and provides rare evidence that histiocytic sarcoma associated with indolent lymphomas may harbor the  BRAFV600E mutation in HS, and the presence of this mutation raises the possibility of using targeted therapies such as vemurafenib [V600E protein.Histiocytic sarcoma (HS) is a rare histiocytic neoplasm of unknown etiology that constitutes less than 1% of hematologic malignancies. HS can occur as a primary disorder or as a secondary disorder arising from other hematologic malignancies . HS follurafenib –6. We reA 63-year-old white woman with a history of SMZL diagnosed in 2014 and treated with splenectomy presented to an outside hospital with 2 weeks of right-sided neck swelling. A computed tomography scan of her neck revealed asymmetric soft tissue fullness posteriorly in her tongue on the right side, which suggested a possible infectious or inflammatory process involving her tongue. She was given a single dose of ampicillin-sulbactam intravenously and transferred to our emergency department for further evaluation. After evaluation by an otolaryngologist, she was prescribed a 10-day course of amoxicillin-clavulanate for lingual tonsillitis and discharged. She returned 1 week later with fevers, dysphagia, and worsening pain in her neck. She was admitted to our hospital and underwent a positron emission tomography (PET) scan, which demonstrated hypermetabolic soft tissue fullness at her right tongue base with extension into the vallecula and a maximum standardized uptake value (SUV) of 4.5 . The HS cells stained positive  sequencing.Given the presence of a mass in her right skull base, a lumbar puncture was performed, which revealed rare, large mononuclear cells suggestive of atypical monocytes/macrophages. A subsequent bone marrow biopsy contained a neoplastic infiltrate of large pleomorphic cells with frequent folded/irregular nuclei, variably prominent nucleoli, fine chromatin, and abundant amounts of eosinophilic cytoplasm Fig. . A few mive Fig. , which iV600E immunohistochemistry  [BRAF mutations in histiocytic neoplasms are restricted to the Langerhans-cell type, although HS was not included in the study [BRAFV600E mutation.The finding of BRAFutation) . Anotherhe study . In conthe study . The prehe study , 6. Our V600E expression, we may have utilized vemurafenib in addition to chemotherapy. However, further research is needed to clarify the role of targeted therapies such as vemurafenib in the treatment of patients with this disorder.Our case also illustrates the aggressive nature of HS. Despite obtaining a diagnosis within 2 weeks of admission, our patient declined rapidly and was unable to receive chemotherapy. It is unclear whether obtaining a diagnosis sooner would have improved her outcome since HS is known for being resistant to chemotherapy, and the best chemotherapy regimen is unknown . FurtherBRAFV600E mutation. Further research is needed to clarify the role of targeted therapies such as vemurafenib in the treatment of patients with this disorder.Our case illustrates the aggressive nature of HS, and provides rare evidence that HS associated with indolent lymphomas may harbor the


Lumbar osteoid osteoma has a low incidence, which could easily lead to scoliosis.Scoliosis secondary to lumbar osteoid osteoma could be easily misdiagnosed when patients do not complain of obvious symptoms.We reported a case of a 9-year-old boy with back deformity that was firstly diagnosed with scoliosis at the local hospital. After prescribed with orthosis, the patient experienced aggravating pain that could not be relieved with painkillers. After he admitted to our hospital for further medical advice, he was prescribed to complete radiological examinations. Considering his radiological examination results and his medical history, correct diagnosis of lumbar osteoid osteoma was made.Surgical intervention of posterior lesion resection was conducted after diagnosis. Intra-operative frozen pathology indicated features of osteoid osteoma. As the lesion involved inferior articular process of L5, which could cause lumbar instability after lesion resection, internal fixation was conducted at L4-S1 segment, and posterolateral bone fusion was also conducted at L5-S1 segment.Three months after operation, the patient showed marked improvement of scoliosis deformity and great relief of lumbar pain.Although spine osteoid osteoma is clinically rare, it shall not be overlooked when young patients present with scoliosis first. Radiological results including computed tomography and magnetic resonance imaging shall be taken carefully as reference when making diagnosis. Surgical intervention of lesion resection could well improve scoliosis and relieve lumbar pain. It occurs more in extremities than in spine. Here, we reported a rare case of delayed diagnosis of scoliosis secondary to lumbar osteoid osteoma, which is difficult to diagnose when patients complain of no pain. After correcting the diagnosis, we successfully conducted posterior tumor resection, grafting bone fusion, and internal fixation. The patient reported great relief of pain as well as marked improvement in spine deformity after the operation.Osteoid osteoma is a benign bone lesion with high incidence at the age between 10 and 20,22.1A 9-year-old boy admitted to our hospital on December 11, 2015 complaining of scoliosis for 1 year and lumbar pain for half a year. The patient presented back deformity with asymmetrical shoulder height 1 year ago, and he admitted to the local hospital. X-ray examination was prescribed, revealing scoliosis with thoracic Cobb angle from T5 to T12 to be 36° and lumbar Cobb angle from L1 to L5 to be 20°  scanning .33.1,5 The predilection sites of spinal osteoid osteoma involve posterior column, especially the vertebral laminae and vertebral pedicle, which could easily lead to scoliosis. Patients with osteoid osteoma often come to seek medical advice with scoliosis as the primary symptom, and osteoid osteoma could easily be misdiagnosed or even never diagnosed.Osteoid osteoma is a common benign tumor with high incidence in teenagers and with incidence of approximately 10% to 25% in spine.3.2,7 However, for cases at the early stage of osteoid osteoma, they may not present with obvious pain. The incidence of osteoid osteoma-related scoliosis varies from 20% to 70%,–11 and spinal scoliosis is mainly due to chronic muscle cramps and inflammatory reactions surrounding the tumor. X-ray examination has its limitation in diagnosing osteoid osteoma as the tumor nest often locate at concave side of the apical segment; by contrast, radionuclide bone scanning has its advantage in locating the lesion. In addition, thin layer CT and reconstruction CT could also define the size, range and location of tumor nest. The MRI manifestations of osteoid osteoma could be various, for example, soft tissue mass, spinal cord edema, etc. It should be noted that osteoid osteoma often present with spinal cord edema combined with soft tissue inflammation, which could lead to misdiagnosis like inflammatory change or malignant tumor.,15 The misdiagnosis rate is reported to be as high as 54.5%. Uehara et al reported a case of misdiagnosis of osteoid osteoma at the lamina of the 10th thoracic vertebra, which they presumed to be scoliosis and planned to perform posterior correction surgery, but as the preoperative CT examination revealed manifestations of osteoid osteoma, they corrected the diagnosis.The diagnosis of osteoid osteoma is primarily based on the clinical manifestations, examinations, laboratory examinations, as well as pathological examinations. Aggravating nocturnal pain is the typical clinical manifestation of spinal osteoid osteoma.3.3,7 However, some studies suggested that osteoid osteoma has excellent self-healing property and nonsteroid anti-inflammatory drugs (NSAIDs) could well control the disease condition. Burn et al reported 4 cases of spinal osteoid osteoma presenting as pain-related scoliosis, among which 2 cases received surgical treatment and 2 cases received nonsurgical treatment with equivalent follow-up outcomes. They suggested that indications for surgical intervention included failed to control symptoms with NSAIDs, marked neurological deficits, and requirement for pathological diagnosis. As drug therapy could yield long treatment cycle and spinal osteoid osteoma often combines with spinal deformity, the long-term drug therapy will do no good to deformity correction, and we believe that surgical resection is the preferred method in alleviating clinical symptoms and correcting osteoma-related deformity. As postoperative instability was reported in 20% to 50% of the patients who underwent surgical osteoid osteoma excision, proper surgical method and excision range based on precise preoperative orientation and careful operation are important to maintain spinal stability. In terms of our case, inferior articular process of L5 was involved, which could cause spine instability after resection, thus L4-S1 internal fixation and posterolateral bone fusion were conducted. In addition, minimally invasive treatment for spine osteoid osteoma like percutaneous radiofrequency thermal ablation and laser thermocoagulation,21 have been promoted recently but conflicting results have been reported as nidus at the posterior part of the spine could inevitably cause thermal damage to the nerves. These noninvasive treatments require further investigation for treating spinal osteoid osteoma.In our case, the patient experienced marked improvement in clinical symptoms like pain and scoliosis deformity after lesion resection, internal fixation, as well as postoperative brace therapy. In addition, as the soft tissue edema in our case was mainly caused by the inflammatory factors released from the tumor due to the rupture of osteoid osteoma wall (as indicated in Fig. Even though spinal osteoid osteoma is clinically rare, it will be taken into consideration when young patients present with scoliosis. Radiological examinations like CT and MRI will be completed to avoid misdiagnosis. Surgical resection could well improve scoliosis and relieve lumbar pain.


Dentigerous cyst appears surrounding the crown of an included tooth. On the radiographic exam, a radiolucent rounded well-defined lesion can be observed.This study reports a clinical case of a 34-years old man with a pericoronal radiolucent lesion associated to an impacted lower third molar with the presence of radiopaque material inside. The radiological differential diagnosis was calcifying odontogenic tumor, adenomatoid odontogenic tumor and dentigerous cyst. The impacted third molar was removed and the lesion was sent for the histopathological exam.The histopathological diagnosis was dentigerous cyst with capsular calcifications. Specifically, parietal calcifications on its connective wall and a piece of cemento-osseous tissue inside.Non-neoplastic lesions such as dentigerous cysts could develop radiopacities inside the radiolucent pericoronal area. Key words:Dentigerous cyst, calcifications, third molar, differential diagnosis. Dentigerous cyst is a developmental odontogenic benign lesion which surrounds the crown of an included tooth . RadiogrDifferential diagnosis has to include other pericoronal odontogenic lesions such as odontogenic keratocyst, unicystic ameloblastoma or adenomatoid odontogenic tumor ,2. The tThe aim of this study was to report and discuss a particular dentigerous cyst with calcifications on its connective wall.A 34-years old man, without any relevant medical background, attended to the Dental Clinic to perform a routine check-up. The orthopantomography revealed an included right lower third molar associated to a pericoronal radiolucency with a radiopaque area inside Fig. A. IntereThe surgical intervention was made under local anesthesia (4% articaine and 1:200.000 epinephrine) by a direct troncular technique to anesthetize inferior alveolar and lingual nerves, and an anesthetic infiltration on the buccal side and the retromolar mucosa for the buccal nerve. A triangular mucoperiosteal flap was elevated and then, the soft-consistency lesion fenestrating the alveolar ridge was observed. Ostectomy was performed with a number 8 round tungsten carbide bur for hand piece under saline solution irrigation. Then, the complete enucleation of the lesion was done and a turbid liquid and a small piece of hard tissue emerged from the inside. Subsequently, the extraction of the third molar was made maintaining the integrity of the neurovascular bundle of inferior alveolar nerve located lingually. Finally, the wound was sutured with 3/0 silk. The patient did not present intraoperative nor postoperative complications until a follow-up period of 2 years.The lesion was immersed in a 10% formaldehyde solution and sent to the Oral and Maxillofacial Pathology and Diagnosis Service (SDPOMF) for the histopathological exam.Microscopically, a cystic wall constituted by fibrous connective tissue was observed. Interestingly, some basophilic globular calcified ovoid deposits were seen into its thickness. Furthermore, some of these had a greater size and presented a cemento-osseous structure with apposition lines and included cells. Some capsular deposits showed a non-keratinized stratified thin epithelial lining, focally detached Fig. . The hisThe present case report presents clinical and radiological characteristics that could be initially correlated with a benign odontogenic neoplasm. Generally, dentigerous cysts are asymptomatic unless they become secondarily infected or achieve a large size producing bone deformation or adjacent tooth retention or displacement ,3. LowerA thorough clinical and radiographic evaluation is needed for the diagnosis of pathology of the jaws. The final diagnosis is only obtained through the histopathological exam. Despite of the low frequency, some pericoronal lesions could correspond to benign tumors such as adenomatoid odontogenic tumor , calcifyThere are some published cases of dentigerous cysts containing calcified deposits that, radiographically, were provisionally wrongly diagnosed as benign odontogenic tumors with calcifications . This siet al.  exam of included third molars with pericoronal lesions to build a correct differential diagnosis.Thus, non-neoplastic lesions such as dentigerous cysts could develop radiopacities inside the radiolucent pericoronal area.


Objective: Myxofibrosarcoma (MFS) is a relatively rare tumor that is histologically characterized by myxoid stroma and spindle cell proliferation. This tumor most commonly arises as a slow growing, enlarging painless mass in the extremities of elderly patients. Methods: We report a case of a primary, low-grade MFS in the rectus abdominis muscle infiltrating the abdominal cavity of a 75-year-old man. Results: The patient underwent a wide excision of the right abdominal wall mass with a 3-cm surgical margin from the scar due to a biopsy. The tumor infiltrated the urinary bladder, peritoneum, and external iliac vessels. Twenty-six months after the initial operation, he had recurrences in his abdominal wall, urinary bladder, and right iliac vessels. Conclusions: To our knowledge, primary MFS of the muscle in the abdomen has not been documented previously. Although this case was histopathologically classified as a low-grade tumor, it infiltrated the abdominal cavity. The tumor is suspected to have penetrated the abdominal cavity below the linea arcuata, which lacks the posterior sheath of the rectus abdominis muscle; from there, it could easily spread without being blocked by any biological barriers. We report a case of a primary low-grade MFS in the rectus abdominis muscle invading the abdominal cavity of a 75-year-old man.Myxofibrosarcoma (MFS) is a relatively rare tumor that is histologically characterized by myxoid stroma and spindle cell proliferation. This tumor most commonly arises as a slowly enlarging painless mass in the extremities of elderly patients and is very rarely observed in the abdominal cavity and retroperitoneum.A 75-year-old man experienced an induration with pain on his lower abdominal wall. Since the tumor increased gradually, he consulted a plastic surgeon. Magnetic resonance imaging revealed a tumor in his right rectus abdominis muscle. Magnetic resonance imaging showed a heterogeneously contrast-enhancing mass involving his right rectus abdominis muscle . The patThe patient underwent a wide excision of the right abdominal wall mass with a 3-cm surgical margin from the scar due to a biopsy. The tumor infiltrated the urinary bladder, so we shaved the surface of the muscle layer of the bladder . HoweverPostoperatively, the patient had a paralytic ileus, which resolved after decompression with an ileus tube. The gross specimen measured 10 × 4 × 4 cm, and the lesion within the specimen was semitranslucent, gelatin-like, and with hemorrhage. Histologic examination showed a multinodular lesion with a prominent myxoid matrix. A small number of irregular, spindle-shaped, or stellate cells, with hyperchromatic nuclei, proliferated in the stroma . Accordi,Myxofibrosarcoma is one of the most common soft tissue sarcomas in the elderly and occurs mostly on extremities.4,8,In the present case, this large tumor might have originally been located in the rectus abdominis muscle. It extended into the abdominal cavity, involving the urinary bladder and the right half side of the peritoneum. To our knowledge, MFS in the skeletal muscle of the trunk is rare, with few cases of thoracic lesions being reported previously.6Potential therapeutic options for MFS have been reported, including wide local excision, chemotherapy, and radiation. Wide local excision is the most recommended strategy for low-grade MFS.We presented a rare case of a large tumor with clinical and histopathological features of low-grade MFS in the rectus abdominis muscle with recurrence. The tumor was suspected to have penetrated the abdominal cavity below the linea arcuata, which lacks the posterior sheath of the rectus abdominis muscle; from there, the tumor could easily infiltrate the surrounding areas without being blocked by biological barriers.


Intra-abdominal lymphangiomas are rare, benign tumors in adults. This report is the third documented case of a lymphangioma originating in the hepatoduodenal ligament that mimicked a simple liver cyst.A 50-year-old woman was admitted with a cystic tumor in the right lobe of her liver and underwent laparoscopic excision of the cyst. Operative findings revealed that the cyst had developed in the hepatoduodenal ligament, not in the liver. A small part of the cystic wall remained on the dorsal surface of the hepatoduodenal ligament. Immunohistochemically, the tumor cells stained positive only for D2-40, leading to a diagnosis of lymphangioma (cystic type). Six months later, a cystic tumor recurred and was completely excised via laparotomy. No recurrence was observed after the second operation.The incomplete excision of the cystic tumor led us to re-operate 6 months after the first operation for the local disease recurrence. Lymphangiomas are rare, benign tumors and most of them occur in children. Approximately 90% of these childhood patients are diagnosed within the second year of life. More than 90% of lymphangiomas are located in extra-abdominal regions, such as the head, neck, and axilla. Lymphangiomas in the peritoneal cavity are extremely rare, particularly in adults –4. HereiA 50-year-old woman who had been treated 2 years ago with hormone preparations administered tamoxifen and leuprorelin acetate after a curative operation for solid-tubular carcinoma in the left breast was hospitalized with a 4-month history of abdominal distension and epigastric discomfort. On physical examination, there was slight tenderness in her epigastric region with normal bowel sounds. Laboratory examinations were unremarkable.An ultrasound sonography (US) revealed a low echoic, large cystic mass in the epigastrium without a septum in the tumor. Computed tomography (CT) scans with contrast medium demonstrated a low-density, homogeneous tumor without a septum. The tumor was oval in shape, 13 × 10 cm in diameter, and attached to the inferior surface of the liver. The cystic wall was not enhanced by the contrast medium , or as a result of local degeneration of lymphatic tissue .Preoperative diagnosis of lymphangiomas is usually difficult with only a few reports in which an accurate preoperative diagnosis was made . Levy etHistological and immunohistochemical examinations are needed for complete diagnosis of lymphangiomas. At the first operation, the cystic mass originated from the dorsal part of the hepatoduodenal ligament and not from the liver parenchyma. However, this observation alone was not sufficient to make a diagnosis of lymphangioma originating from the hepatoduodenal ligament. Suthiwartnarueput et al. previously reported that immunohistochemical positivity for D2-40, a lymphatic endothelial marker, in the cystic wall endothelium, supported this rare diagnosis . In the Complete excision is required to avoid recurrence of the cyst and its symptoms if a diagnosis of lymphangioma is made , 16. In Intra-abdominal cystic lymphangiomas, which occur in the hepatoduodenal ligament mimicking a simple liver cyst, are extremely rare, benign tumors. A diagnosis of this tumor requires histological and immunohistochemical support. Complete excision is the treatment of choice to avoid recurrence of the tumor.


Arteriovenous malformations (AVM) of the urinary tract are extremely rare. To the best of our knowledge, only three case of AVM of the ureter have been described in the literature so far.We present an additional, fourth case of an AVM of the ureter, clinically presented as asymptomatic haematuria and an obstructive process in the left ureter. Ureteroscopic evaluation revealed a fibroepithelial polypoid-like lesion in the proximal ureter. After biopsy showed a benign lesion, the lesion was treated with the 2-μm continuous wave (cw) thulium laser. Histopathological examination revealed a polypoid laesion caused by a circumscribed arteriovenous malformation. Almost four years after operation the patient remains asymptomatic and free of recurrence.Arteriovenous malformations of the urinary tract are extremely rare. We presented a fourth case of a arteriovenous malformation of the ureter.The online version of this article (doi:10.1186/s12894-017-0237-z) contains supplementary material, which is available to authorized users. Ureteral tumours are rare, and 20% of these tumours are benign . FibroepA 41 year old woman was referred to our hospital for asymptomatic macroscopic haematuria, which was discovered during a procedure of in vitro fertilisation. She experienced some discomfort in the middle lower quadrant of the abdomen. There was no history of urinary tract infections or stones. Physical examination findings were within normal limits. Urinalysis showed haematuria, and cytology revealed atypical transitional cells. Ultrasonography of the kidneys presented neither hydronephrosis nor urolithiasis. Abdominal-pelvic computed tomography revealed a thickened ureteral wall of the proximal part of the left ureter. Moreover, a presumed blood clot was observed in the ureter for which there was no suspicion of tumour. Retrograde pyelography revealed a filling defect of the left ureter from L4–L5 [Fig. Ureteroscopy showed a 3 cm, firm polypoid-like lesion with a glistening appearance. A biopsy of this polypoid-like lesion demonstrated fibrosis, with no signs of malignancy. It was decided to perform ureteroscopic polypectomy to remove the lesion by the 2-μm cw Thulium laser; during the intervention, no bleeding occurred [see Additional files 1 and Additional file 1: ‘Intro en ureter tumorpeg 2: It is videoclip used for Dutch education where our case is used as illustration for different ureter abnormalities and their treatment. (MPEG 37356 kb)AVMs of the ureter are very rare. To our knowledge only three cases have been described –7. The fHistological examination of the lesion is warranted because on visual inspection it is difficult to distinguish a benign lesion of the ureter from a papillary urothelial neoplasm. Moreover, pre-operatively it is important to know what kind of lesion will be treated so that the most preferable approach can be used. For AVM, laser excision is the best procedure since it diminishes the risk of haemorrhage. Selective embolization is also an option, depending on the location of the AVM lesion. However, excisional biopsy with laser coagulation is indicated when a lesion of unknown origin is treated. In our case (case four), cytology of the urine showed moderate to severe atypia. However, on visual inspection and biopsy a benign lesion was suspected; therefore, in this case laser surgery was the preferred approach.Arteriovenous malformations (AVM) of the urinary tract are extremely rare. We presented a fourth case of a arteriovenous malformation of the ureter.Additional file 2:Epigenetic influences: Environmental and Lifestyle Influences on Genomics, Proteomics and Metabolomics. (PNG 90 kb)


Extramedullary plasmacytoma (EMP) a rare plasma cell disorder and is frequently associated with plasma cell bone marrow infiltration. Most EMPs involve mucosal lymphoid tissue, especially in the nasopharyngeal area, respiratory tract, and head and neck region. Primary involvement of the kidney is exceedingly rare.A 14-year-old girl was admitted in our hospital with intermittent right upper quadrant pain for 1 month and recent (1 day) progressive deterioration. There was a mass found by ultrasonography in the right kidney and subsequent abdominal computed tomography scan revealed a 3 cm mass within the right kidney.Pathology revealed typical histology of plasmacytoma and immunohistochemistry revealed the expression of CD138, CD45, vimentin, and Kappa light chain.The patient successfully underwent radical nephrectomy with an uneventful recovery. She received no chemotherapy or radiotherapy after surgery.There was no recurrence or metastasis during a 22-month follow-up.Our case study demonstrated that renal EMP with a relatively indolent clinical course, if detected at an early stage, can be treated by radical nephrectomy without adjuvant therapy. Generally, the clinical outcome and prognosis of EMP are favorable About 15% of plasmacytomas may progress to multiple myeloma (MM). No clear therapeutic guidelines are available due to its rarity. In this case report and short review, the patient's characteristics, diagnosis, treatment, and outcome are discussed.Solitary extramedullary plasmacytoma (EMP) is a rare plasma cell disorder without bone marrow involvement. The occurrence of plasmacytoma has a male-to-female ratio of 3:1 and constitutes about 3% of all plasma cell tumors.2A 14-year-old girl was referred to our hospital for intermittent right upper quadrant pain for 1 month and recent (1 day) progressive deterioration. There were no unusual findings on routine physical examination. Before the diagnosis, she had no gross hematuria. Results from routine medical laboratory tests including clinical biochemistry showed normal values except for macroscopic hematuria. A conventional radiographic bone and chest examination also yielded no abnormal findings. Computed tomography (CT) scan of the abdomen revealed a homogeneous and well-circumscribed mass, measuring about 3 cm, adjacent to the hilum of the right kidney Fig. . Therefo3–9An extramedullary plasmacytoma is a rare malignant neoplasm usually arising from the B-lymphocytes outside the bone marrow. EMP occurs either as a solitary plasmacytoma or multiple myeloma. The diagnosis of EMP depends upon the demonstration of extramedullary plasma cell tumor with no evidence of systemic signs and symptoms associated with MM. EMP commonly involves the respiratory tract, larynx, as well as the gastrointestinal tract and lymph nodes. EMP arising in the kidney is very rare and there are only few reports about EMP of kidney in the literature. Some cases revealed soft tissue masses along the renal capsule and paraaortic region that were of relatively low attenuation accompanied by granular calcifications. In our case, CT attenuation of this tumor was approximately 50 HU which revealed a relatively “hyperdense” mass. This finding is seen in only 2% of RCC and hyperdense, homogeneously enhancing mass has a low possibility of being RCC. So, biopsy is recommended when looking at this kind of tumors. If biopsy is performed, radiotherapy may be the treatment of choice and unnecessary surgery could be avoided.Radiological findings in renal plasmacytoma are indistinguishable from renal cell carcinoma (RCC). Radiological diagnosis of EMP is infrequent owing to its location and nonspecific manifestations. The CT features of abdominal EMP show a multifocal pathology with involvement of perirenal space and are most frequently seen as well-defined enhancing masses. Such tumors may be difficult to diagnose and the differential diagnosis of anaplastic tumors could be made without immunohistochemistry. Nevertheless, the differential diagnosis between EMP, lymphoma, and other kinds of tumors can sometimes be troublesome. Such atypical plasmacytomas may present diagnostic problems without immunohistochemistry. Hence, it is important to establish a methodology to differentiate anaplastic tumors, especially in unusual locations such as the kidney. The diagnostic criteria for solitary EMP is as follows: tissue with plasma cell histology; infiltration of bone marrow plasma cells is less than 5% of all nucleated cells; absence of osteolytic bone lesions or other tissue involvement.Definite diagnosis is reached only through histopathological examination coupled with immunohistochemistry. Plasmacytic tumors may be composed of pleomorphic cells with very little resemblance to normal plasma cells. The disease can be cured by radiotherapy, however, it is difficult to establish its role because of the small number of renal EMP patients who have received radiotherapy. Treatment with chemotherapy does not appear to be indicated because it had no effect on the course of EMP and is not recommended. Any risk factors for the development of MM are not described. After treatment, all patients with EMP should have close observation to detect local recurrences or progression to MM. Generally, the clinical outcome and prognosis of EMP are favorable and the overall 5-year survival rate ranges from 53% to 75%.No guidelines are available for EMP due to its rarity and variable presentation and there are no widely established treatment criteria. Surgery or radiotherapy, alone or in combination, can be used according to tumor sizes, clinical stage, and willingness of the patient. Surgical removal of the tumor can be performed as sole treatment for small masses, particularly for a limited and easily resectable mass just like our case. EMP is highly radiosensitive and nearly all patients successfully achieve local control.4Renal plasmacytoma has a relatively indolent clinical course and radical nephrectomy without adjuvant therapy may result in a good prognosis. Dissemination of EMP occurred in 15% of the patients and frequently within the first 3 years, thereby indicating that EMP should be followed up for a long period following surgery.


Aggressive fibromatosis (AF) or desmoid tumors is an aggressive fibroblastic proliferation which is locally invasive but can not metastasize. The treatment of AF is challenging. Surgery was the main treatment modality for AF in the past, other strategies including radiotherapy, systemic therapies and wait-and-see policy. The use of non-steroidal anti-inflammatory drugs (NSAIDs) and targeted therapies has demonstrated good results. In the case report, a 39-year-old man presented with progressive chest wall pain. Computed tomography (CT) showed an approximately 46× 13 mm soft-tissue mass between the inside of the fifth and sixth rib on the right side. The entire mass was excised and an AF was confirmed based on histopathology. Four months after surgery, magnetic resonance imaging (MRI) showed a soft-tissue mass in surgical areas and biopsy confirmed local recurrence. Therefore, Tomotherapy was administered. However, two months later, an (18)F-fluorodeoxyglucose (FDG) Positron Emission Tomography combined with CT (PET-CT) revealed the presence of an FDG-avid mass in the area of local recurrence. Genetic testing reported the presence of a p.T41A mutations on the CTNNB1 gene, which predicted that he is sensitive to the COX-2 inhibitor celecoxib. The tumor regressed rapidly after the application of celecoxib. Within the 20-month follow-up period, the patient showed remarkable regression without any signs and symptoms. Our case report provides further evidence for the efficacy of celecoxib in AF with CTNNB1 gene mutations. To our knowledge, this is the first report of AF treated with celecoxib under the guidance of the genetic testing. However, further studies are required. Aggressive fibromatosis (AF), also known as desmoid tumor, is aggressive, destructive, and infiltrative soft tissue neoplasms. It has a high risk of recurrence, but lacks the ability to metastasize. AF accounts for 3% of all soft-tissue malignancies with an incidence of 2.4–4.3 new patients per million population per year.18 F-FDG PET/CT images showed the SUVmax of soft tissue on the chest wall was 4.5 on January 29, 2015. Tomotherapy had been given at doses of 60 Gy (2Gy/fraction) in February 2015. However, a follow-up 18F-FDG PET/CT demonstrated intense18 F-FDG uptake in a spindle soft tissue mass with an SUVmax of 4.3 on April 28, 2015  was noted in the right rib. An enhanced computed tomography (CT) showed an approximately 46× 13 mm soft-tissue mass between the inside of the fifth and sixth rib on the right side, and the mass was enhanced slightly with periosteal reaction in adjacent ribs . He neit28, 2015 . For per28, 2015 . After a28, 2015 . Until nSporadic AF is characterized by somatic mutations in the β-catenin genes (CTNNB1) or adenomatous polyposis coli (APC) gene. Several studies demonstrate that around 85% of sporadic desmoid tumors harbor mutations in exon 3 of CTNNB1 gene, and three kinds of CTNNB1 status, 41A (59%), 45F (33%) and 45P(8%), are found. Considering the unpredictable natural history, the therapy remains enigmatic. The principle treatment has been considered for surgeries with or without radiation. Due to its biological behavior, therapeutic strategy has been shifted and watchful waiting may become an appropriate management.In the present case, local recurrence occurs repeatedly despite operation and radiotherapy. Therefore, the genomic analysis is utilized to direct clinicians in selection treatment drugs. The patient showed remarkable regression after the application of celecoxib according to genetic testing. At the end of 20-monthfollow-up, the patient showed no tumor deterioration and remained asymptomatic.A Pilot Study reported that 19 (95%) of the 20 patients with Extra-Abdominal Desmoid Tumors had a final status of SD or got better with the use of Meloxicam, a Cyclooxygenase-2 inhibitorIn conclusion, as shown in our case report, an AF recurrence was successfully treated with celecoxib under the guidance of the genetic testing, which provides further evidence for NSAID. Multicenter randomized controlled trials are required in the future.