Kimura disease (KD) is an uncommon chronic inflammatory disorder of unknown etiology, occurs mainly in Asian young males, presenting as subcutaneous growing masses, with a predilection for head and neck, with or without satellite lymphadenopathy. Herein, we report a case of an atypical manifestation of KD accompanied with NS in a middle-aged man, though the patient was clinically misdiagnosed previously. The diagnosis of KD can be difficult and misleading, so we must explore the main points of KD so as to prevent misdiagnosis. KD is an uncommon chronic inflammatory disorder of unknown cause, involving subcutaneous tissue, predominantly in the head and neck region. It can be associated with lymphadenopathy , obvious peripheral blood eosinophilia, and an elevated IgE level . Most caA 45-year-old Chinese man came to our department with a soft mass in medial aspect of his right upper arm. According to the patient, the mass appeared in 2003 for the first time and that was without any obvious cause. He became aware of the mass after about 5 years when he noticed that the enlargement was gradually progressive. Then he visited general surgery department in October 2008 and underwent surgical resection of mass after 3 months in January 2009.The histopathology report of the mass at that time revealed a proliferation of lymphoid follicles and diffuse infiltration of eosinophil, and WBC: 8200/dL (eosinophil: 38%). So it was diagnosed provisionally as a suspected case of parasitic infection by a physician, and then the patient wasn’t followed up.In 2013, the lesion reappeared and gradually became larger than before, so he visited our clinic. Physical examination revealed a firm, nontender, mobile, subcutaneous mass of 4 cm × 5 cm . There has been no recurrence of the disease for 1 year.Association of KD with renal disease in the form of proteinuria and NS is well recognized. Proteinuria may occur in 12–16% of patients and 59–78% of them have a NS ,4. The rKD is often confused with malignancies, T cell lymphoma, Hodgkin’s disease, parasitic infection and histiocytosis X. Ultrasound, CT, and magnetic resonance imaging (MRI) might be diagnostic and can help staging the extent and progression of the disease as well as the lymph node involvement. The peripheral blood eosinophilia can also mimic a parasitic infection or an allergic reaction. However, the lesion that bears the closest resemblance to KD is Angiolymphoid Hyperplasia with Eosinophilia (ALHE). The clinical and histological features of KD and ALHE are compared in Table Treatment for KD includes surgical resection and regional or systemic steroid therapy . CytotoxWritten informed consent was obtained from the patient for the publication of this report and any accompanying images.


The objective of this teaching case is to report the excellent results of using lattice radiation therapy (LTR) for the treatment of a large metastasis from ovarian carcinosarcoma. This new technical concept extrapolates the traditional spatially fractionated radiation therapy (GRID) technique to advanced three-dimensional (3D) high-dose radiation therapy using modern instrumentation in radiation oncology. We report a case of a 61-year-old female with a large metastatic mass from ovarian carcinosarcoma treated by this procedure with excellent clinical and image-based follow-up results for more than four years. Up to 90% of ovarian carcinosarcomas will have disease that has spread beyond the ovary, usually involving the peritoneum. Ovarian carcinosarcomas typically occur in postmenopausal women at a median age of 65 years [Carcinosarcomas  .Symptoms of vaginal bleeding, pelvic mass, and lower abdominal pain are typically found in gynecological tumors. The tumor in the ovary is often diagnosed at the time of peritoneal spread and presents as a pelvic mass with peritoneal carcinomatosis.The prognosis for ovarian carcinosarcoma is worse than for uterine carcinosarcoma and high-grade ovarian carcinomas of a similar FIGO stage . Most ofUntil recently, gynecological carcinosarcomas were considered as a subtype of sarcoma and treated as such. However, carcinosarcomas are now known to be metaplastic carcinomas; therefore, they should be treated as endometrial or ovarian high-risk carcinomas, despite the lack of specific data. Currently, there is no clear evidence to establish a consensus concerning guidelines for therapeutic management of carcinosarcomas with radiation therapy.For ovarian carcinosarcomas and for other ovarian epithelial cancers, the mainstay of treatment is surgical cytoreduction with a total abdominal hysterectomy, bilateral salpingo-oophorectomy, omentectomy, aspiration of abdominal fluid, pelvic and para-aortic lymph node dissection, and tumor debulking followed, even in early stage, by chemotherapy. Retrospective studies have reported an improved outcome for patients undergoing an optimal debulking surgery without residual disease (less than 1.5 cm).The use of radiotherapy without surgery has not been demonstrated to increase survival, although this is an indication for palliation and even to reduce the number of local recurrences . AdjuvanThere is a novel technique in the field of EBRT that extrapolates the traditional 2D GRID procedure to advanced three-dimensional (3D) high-dose radiation therapy: lattice radiation therapy (LTR). It is thought that LRT would potentially improve the response of bulky tumors by triggering the bystander effect in the neighbor cells . With LRWe have had experience with this technique in more than 20 patients with excellent response in diverse areas of the body, including the thorax, abdomen, pelvis, head and neck, and extremities, for a different diagnosis. We present here a case report of a patient with a large abdominal mass treated with LRT diagnosed four years ago with follow-up results over more than three years after treatment.Informed patient consent was obtained for treatment. No identifying patient information is disclosed in this study.A 61-year-old female presented with abdominal pain and increased abdominal girth. She underwent a CT scan of the abdomen and pelvis in August 2011, which revealed a large complex mass extending from the pelvis, likely from the left adnexa. She then underwent exploratory laparotomy, a total abdominal hysterectomy, bilateral salpingo-oophorectomy, and omentectomy (TAH/BSO). The surgical pathology report demonstrated a poorly differentiated malignant Müllerian tumor, including serous and clear cell types involving bilateral ovaries, fallopian tubes, uterine serosa, and omentum. Pelvic masses measured 7 cm, 6.5 cm, and 28 cm in the greatest dimensions, respectively. Peritoneal fluid washings were positive for malignant cells and rare cells consistent with an adenocarcinomatous component of the malignant mixed Müllerian tumor (Stage III-C). She received adjuvant chemotherapy until January 2012 with complete response. Follow up PET-CT in February 2012 showed no evidence of residual or recurrent malignancy.The patient received multiple regimens of adjuvant chemotherapy, including bevacizumab, doxorubicin, gemcitabine, and Abraxane, over several months. In November 2013, two years after surgery, she was reevaluated because of a rapidly growing pelvic mass despite chemotherapy. She complained of right pelvic pain with intermittent radiation to the right leg, VAS  pain level was 4/10. CT scan of the abdomen and pelvis at that time showed an interval increase in the size of the very large heterogeneous pelvic mass with more than a 14 cm diameter and a volume of 1,495 cc as well as tumor implants along the right psoas muscle and adjacent to the gallbladder as shown in Figure The patient was evaluated to receive chemotherapy combined with external beam radiation therapy (EBRT). Due to the large size and the radioresistant nature of the tumor, lattice radiation technique (LRT) was considered as the best option of treatment as follows:LRT: 3 Gy  + 9 Gy in vertices: 3 fractions. The vertices size was between 1.5 - 2 cm and the number of structures were 12. Treatment planning is shown in Figure After LRT, the patient received:1.8 Gy: 5 fractions.2 Gy  + 5 Gy as IB: 5 fractions1.8 Gy: 5 fractions2 Gy  + 5 Gy (strips): 5 fractions.The scheme of treatment, as described above in Table In the treatment planning, the gross tumor volume (GTV) was contoured using a planning CT diagnostic image. Planning target volume (PTV) margins were set at 5 mm. Treatment was delivered with image-guided radiation therapy (IGRT) using cone beam CT (CBCT) in every fraction using the Varian Trilogy™ linear accelerator . A volumetric modulated arc therapy (VMAT) technique was used. Fractions of treatment were given in consecutive days. In total, 23 fractions were delivered in 43 elapsed days. She completed the treatment in January 2014 without any significant toxicity.The first follow-up visit one month after treatment in February 2014 showed an interval decrease in the size of the large heterogeneous pelvic mass and the tumor implant along the right psoas muscle in CT of the abdomen. This decrease in the size of the pelvic mass is shown in Figure In September 2014, MRI of the abdomen showed a large lesion in the right lobe of the liver (segment 7/6) and interval decrease of the pelvic mass. The patient had a liver lesion biopsy, which revealed metastatic adenocarcinoma consistent with adenocarcinoma of Müllerian origin. She was treated with SBRT to the liver metastases, receiving a total dose of 60 Gy in 3 fractions (20 Gy per fraction). Figure Three months later, in December 2014, new studies demonstrated a new abdominal wall mass with stable disease in the previously treated areas. In the physical examination, she had a palpable firm abdominal wall mass with no pain. The patient underwent retreatment with radiation therapy to the metastatic lesion in the abdominal wall. She completed treatment to the abdominal wall metastasis using a conformal partial arc. Total dose delivered was 37.50 Gy using 2.5 Gy per fraction in 15 fractions. She tolerated the treatment well with no morbidity. Figure Her last CT scan of the abdomen/pelvis in June 2015 demonstrated a decrease in the size of the liver lesions, a decrease in the size of the soft tissue mass identified within the abdominal cavity right of midline, and the large calcified pelvic mass. The volume of the lesion has decreased from 1.495 cc to 442.8 cc, over 70%, as shown in Figure According to the last follow-up in August 2015, three years after treatment completion, the patient had stable disease with a Karnofsky performance status (KPS) of 90 %. The patient died in October 2015 due to distant disease progression with local control in the abdominal lesions previously treated, a good performance status (KPS 90%), and quality of life. Overall survival was 50 months from diagnosis (four years and two months).Wu, et al.  describeLattice radiation therapy is a novel, safe, and effective technique that can be used for the treatment of voluminous tumors (size > 6 cm), allowing for the delivery of a very high dose inside the tumors. This means a higher local control without adding any extra toxicity in the peripheral normal tissue regions. LRT combined with chemotherapy for the treatment of the large recurrent ovarian mass in this patient was very well tolerated. It proved to be an optimal therapeutic option demonstrated with excellent clinical and image-based follow-up results for more than four years.


Primary mucinous adenocarcinoma is an extremely rare type of bladder cancer, with aggressive behavior and poor response to chemotherapy and radiotherapy. The symptoms are similar to those of other bladder tumors. Surgery is the main treatment and remains the only curative option. There may be a progression from mucinous metaplasia to mucinous adenoma and then mucinous adenocarcinoma. We present the case of a 40-year-old woman with recurrent lower urinary tract infections, submitted to imaging tests, which showed a bladder tumor. After transurethral resection, pathology showed intestinal mucinous carcinoma. Metastatic work-up was negative. New surgical procedure showed metaplasia but no recurrence of the carcinoma. The patient is now using antibiotic prophylaxis and will undergo a cystoscopy every 3 months and computed tomography in one year. Adenocarcinoma represents 0.5 to 2% of all malignant tumors of the bladder, and the mucinous subtype is extremely rare as a primary vesical lesion . It is mThis cancer has aggressive behavior, with intramural growth, which leads to late onset of symptoms and delay in diagnosis with worse prognosis. The diagnosis is based on cystoscopy, urinary cytology, and transurethral resection of the bladder. The tumor shows a poor response to chemotherapy and radiotherapy. Surgical resection is the main therapeutic option , 6.The patient is 40-year-old female, healthy, nonsmoker, with recurrent lower urinary tract infections over the last year. In the beginning of this period, and ultrasound showed no abnormalities. The next ultrasound, performed by the same radiologist one year later, showed a 21 mm vegetating bladder lesion, close to the urethra . The comAnatomical pathology showed intestinal mucinous carcinoma, originated from tubular polyp with low-grade dysplasia and suggested investigating gastrointestinal source . The finDue to the possibility of a primary lesion in the gastrointestinal tract, and upper digestive endoscopy, a colonoscopy and PET CT were performed, as were tumor markers , all of which without any abnormal results.It was thus concluded that the bladder lesion was primary, which made a second transurethral resection necessary to confirm that there was no residual lesion. The resection was performed 70 days after the first one, without macroscopic evidence of recurrence. It was not performed earlier due to time taken to undergo PET CT, endoscopy, colonoscopy, and pathology review. Fragments were removed from the scar of the previous procedure. Histopathology showed fragments of mucosa and muscular layers of the vesical wall, with spots of metaplasia and spots of cystic glandular cystitis, negative for neoplastic infiltration. The patient recovered well after the second procedure. Antibiotic prophylaxis was done with nitrofurantoin (100 mg at night), to avoid any infectious process which might work as an irritating agent and possible metaplasia inductor. It was recommended that patient undergoes a cystoscopy every 3 months, and computed tomography in one year.When facing a mucinous bladder adenocarcinoma, it is necessary to investigate another source of cancer, since this type of tumor is extremely rare as a primary lesion. In the reported case, extensive work-up ruled out both the possibility of other sites of primary tumor and the possibility of metastasis, confirming the diagnosis of a primary bladder lesion.Chronic irritation of the bladder mucosa often induces metaplasia . In the case of this patient, it is possible that the recurrent lower urinary tract infections worked as an irritating agent, contributing to the metaplastic transformation . AnotherThe classification of the intestinal metaplasia as a premalignant lesion of the adenocarcinoma is still controversial. A study by Morton et al.  shows siThe prognosis of mucinous bladder adenocarcinoma depends mainly on its stage when diagnosed and treated. When the tumor is confined to the bladder, the survival rate is 75–100%; unfortunately, less than 30% of patients are diagnosed at an early stage. In the reported case, despite the absence of symptoms, the ultrasound performed for the investigation of urinary tract infection made the early diagnosis possible. The absence of metastasis and muscular layer infiltration suggests a good prognosis.


Not available. Crystalloid inclusions are rarely encountered within the central nervous system (CNS). Aside from the more common Hirano bodies and Rosenthal fibers, which occur within neurons and astrocytic processes, both being composed of cytoskeletal proteins, eosinophilic crystalloid inclusions have been recently described within oligodendrocytes in a case of adult-onset, complicated form of hereditary spastic paraplegia . HoweverHerein, we add another case of a 56-year-old male patient, who presented with an intra-cerebral tumor-like lesion. After a first stereotactic biopsy, which displayed only reactive changes including some unspecific infiltration by macrophages, more extensive surgery was performed 8 months later. Upon histology, large collections of pleomorphic cells with intracytoplasmic fibrillar and crystalloid inclusions A, B wereIn contrast to the previous cases of CNS CSH, which uniformly presented in young females, this is the first case in a middle-aged male patient. All cases described so far share their presentation and restriction to the CNS . Potential etiology and immunoglobulin composition of CNS CSH are discussed in detail by Orr et al . Given tThe authors declare no conflict of interest.


Angiomyolipoma is a common benign renal tumor. It is typically composed of adipose tissue and hence is easily diagnosed by using imaging methods such as ultrasonography, computed tomography, and magnetic resonance imaging. However, it is difficult to differentiate an atypical angiomyolipoma such as a fat-poor angiomyolipoma from a malignant tumor by using these imaging methods. We report a case of a fat-poor angiomyolipoma with cyst-like changes in a 35-year-old man. The angiomyolipoma was initially suspected to be a cystic renal cell carcinoma according to preoperative imaging studies. A 5-cm cystic tumor with an enhanced septal wall and exophytic formation was present in the middle section of the left kidney. The patient underwent partial nephrectomy. Pathological findings showed necrosis and hematoma in almost the entire lesion, with a small amount of adipose and muscle tissue. Finally, a fat-poor angiomyolipoma was diagnosed. Angiomyolipoma (AML) is one of the most common benign solid triphasic renal tumors and is composed of varying amounts of dysmorphic blood vessels, smooth muscles, and mature adipose tissue , 2. As mA 35-year-old-Japanese man was referred to our department because of left back pain. He did not have any relevant medical or family history.Ultrasonography showed a low-echoic cystic lesion in the left kidney. CT revealed a 5-cm cystic renal mass with a mixed compartment consisting of a mainly hypodense area with a partially hyperdense area in the middle pole of the left kidney. The hyperdense area and septa were enhanced in the early phase and washed out in the late phase Fig. . On T2-wThe patient underwent partial nephrectomy. The tumor peeled away easily from the renal surface and adhered to the renal capsule with a very small area, suggesting that the tumor had originated in the kidney. The size of the surgical specimen was 4.0 × 4.0 × 2.5 cm, and macroscopic findings showed dark reddish spongiform contents rounded with capsule Fig. . PatholoRenal AML is a solid tumor that is encountered commonly in clinical practice . AML is The term “AML with minimal fat” was reported for the first time in 1997 and accounts for approximately 5 % of all AMLs . VariousSome reports recommend a biopsy for tumors with an attenuation value of more than 40 Hounsfield units on unenhanced CT, and without fat cells on MRI, to differentiate AMLs from renal cell carcinoma , 18. OurWe report a case of a fat-poor AML with cyst-like changes, which was difficult to differentiate from a cystic renal cell carcinoma by using preoperative imaging. The etiology of this cystic change from a very tiny tumor is relatively rare. Therefore, we present this case report.We report a case of a fat-poor AML with cyst-like changes, which was difficult to differentiate from a cystic renal cell carcinoma by using preoperative imaging.Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.


Chronic perianal fistulas are a common clinical condition. However, their evolution to adenocarcinoma is rare. We report the case of a 48-year-old man with perianal chronic fistulas, who developed two perianal ulcerated lesions near the external orifices of the fistulas, which extended proximally as a pararectal tumor. No intestinal lesion was seen at endoscopic examination. Histopathological biopsy indicated mucinous adenocarcinoma. Staging was performed by pelvic magnetic resonance imaging (MRI) and thoracoabdominal CT scan. The patient underwent a laparoscopic colostomy followed by neoadjuvant chemoradiotherapy and then laparoscopic abdominoperineal resection followed by adjuvant therapy. We have seen a favorable outcome with no recurrence at 3 years of follow-up. Perianal mucinous adenocarcinoma is a rare disease often associated with a long-standing anal fistula, representing approximately 2-3% of large bowel cancers –4. The oWe report a rare case of large mucinous adenocarcinoma, arising from a perianal fistula, successfully resected after neoadjuvant chemoradiotherapy.A 48-year-old man with a 12-year history of perianal fistula who had recently been suffering from mucinous discharge, pain, and perianal induration was referred to hospital for treatment. One year before, he had undergone urgent surgery for incision and drainage of recurrent perianal abscess. Physical examination revealed two indurated, ulcerative lesions with 7 cm in diameter with three external anal fistula openings , withoutA conventional laparoscopic abdominoperineal resection (APR) in a lithotomy position was performed.The abdomen and perineum were prepared and draped and the anus was closed with stout purse-string suture.Carbon dioxide pneumoperitoneum to a pressure of 12 mm Hg is achieved using a closed technique. A 10 mm trocar is inserted whereupon the 10 mm telescope is introduced. A 5 mm trocar in upper right quadrant, a 12 mm trocar in the lower quadrant, and a 5 mm suprapubic port are placed. Preliminary laparoscopic inspection was performed.We elevate and put traction of the sigmoid, identifying the inferior mesenteric pedicle. We dissect the retroperitoneal space with visualization of the left ureter. We proceed with ligation and division of inferior mesenteric artery and vein. Then we mobilize the rectum by carrying dissection into the avascular areolar tissue of the presacral plane, in accordance with the principles of TME. Meticulous dissection of the mesorectum from the presacral fascia was continued to the tip of the coccyx, taking care of not breaching the interface between the tumor and the elevators. Mesocolon distal to colostomy was ligated and descendent colon was transected with Endo-GIA help.Attention was then turned to the perineal phase of the procedure. The skin surrounding the tumor was excised with adequate tumor-free margin. Dissection was performed in the extrasphincteric plane with the pelvic cavity being entered just anterior to the coccyx. Division of the elevators was then undertaken from posterior to anterior. The dissection remaining near from external anal sphincter but including tracts and extent tumor in ischiorectal fossa. Following dissection of the specimen from the anterior structures, the specimen was removed through the perineal wound.Primary closure of the perineum was performed by approximating the residual elevator musculature by using sutures, without need to reconstruct the pelvic floor with a rectus abdominis or gracilis muscle flap.The postoperative course was uneventful and the patient discharge from hospital was 5 days after surgery. The resected specimen revealed the tumor developed in the ischiorectal fossa with extension to anal sphincters, but there was no evidence of cancer extension to the mucosal surface of the anal canal and rectum. Histological examination of the excised specimen showed foci of mucinous adenocarcinoma involving the lower internal and external anal sphincter muscles, and the resected margins did not show any residual tumor . AccordiThree years later the patient has no evidence of disease and both the functional and cosmetic surgical results are good Figures .The development of a perianal mucinous adenocarcinoma arising in long-standing perianal fistulas is rare, with few reports in the literature , 4, 8, 9Mucinous adenocarcinoma in a long-standing fistula-in-ano is known to be a slow growing, locally aggressive neoplasm with a low-grade histologic appearance and rarity of metastasis . The staTumor spread is usually lymphatic, and the inguinal lymph nodes are the most frequent sites of metastasis. Like the majority of patients in previous reports, our patient had extensive disease at the time of presentation and pelvic, but no inguinal nodal involvement. These tumor aspects are usually related to decreased survival. In the present case, total removal of the tumor without any residual disease was quite difficult because of the size of the tumor and the fact that it had infiltrated the surrounding tissue. For this reason we approached this case like a locally advanced rectal cancer (LARC), neoadjuvant chemoradiotherapy followed by surgery and adjuvant chemotherapy, although the role of CRT in the treatment of perianal mucinous adenocarcinoma has not yet been established , 2, 10. In conclusion, fistula-associated anal mucinous adenocarcinoma is an uncommon complication of chronic perianal fistula. The diagnosis is often unsuspected. Thus, tissue from chronic anal fistula tracts should be submitted for pathologic evaluation. The result of this case suggests that neoadjuvant chemoradiotherapy followed by surgery and adjuvant chemotherapy appears to be a valuable alternative treatment for patients with perianal mucinous adenocarcinoma arising from a perianal fistula. The advantage of this approach can result in downstaging and R0 resection, which prevents local recurrence.


Periosteal chondroma is a rare benign cartilage tumor located on the cortical bone, which may be mistaken clinically and histologically for other and more common tumors in this location. The current study reports the case of periosteal chondroma located in the distal femur of a 14-year-old female. A non-tender swelling, 5×4 cm in diameter, was identified on computed tomography, a radiological study of which revealed an overhanging edge and a radiolucent shadow with stippled calcification in radiographs and a lobular heterogeneous mass in magnetic resonance imaging. Cytological examination of the excision biopsy revealed cellular pleomorphism and binucleate cells. The patient underwent en bloc resection of the tumor and covering periosteum, and the histological diagnosis was subsequently determined to be periosteal chondroma. The present study also reviews nine previously reported cases of periosteal chondroma in the femur, with a discussion of the demographic characteristics, imaging features, differential diagnosis and treatment of bone tumors in this location. This study aims to inform clincians that periosteal chondromas may occur in the distal femur although osteochondromas are more common and to discuss making a differential diagnosis between periosteal chondroma and other bone tumors. Periosteal chondroma is a rare benign cartilaginous tumor that occurs under or in the periosteum on the surface of cortical bone. It was first described by Lichtenstein and Hall  in a repThe current study reports a case of periosteal chondroma located in the distal femur, and reviews the literature with regard to clinical, radiological, histopathological and treatment criteria, in addition to discussing the differential diagnosis of this condition. Written informed consent was obtained from the patient’s family.-month history of a gradually increasing mass in the right lower thigh. No history of trauma or episodes of pain similar to that observed in other bone tumors, such as continuous pain or pain at night, were noted. Firm, non-tender swelling in the distal thigh was observed upon physical examination, with normal overlying skin and no neural deficit. Radiographs revealed an overhanging edge and a radiolucent shadow with stippled calcification  with a twofication . Computefication . Magnetification . No aggrAlthough cytological findings indicated a benign tumor, a diagnosis of chondrosarcoma could not be excluded. Therefore, an extended resection was performed; the tumor was excised en bloc, including margins of normal bone, and ipsilateral limb fibula transplantation was used to repair the cortical defect. Microscopic examination revealed lobules of hyaline cartilage composed of chondrocytes, with foci of endochondral ossification and calcification . The lesThe patient’s surgery was successful and six weeks later, the patient walked with the aid of a brace. At follow-up, radiographs revealed that healing had occurred following the bone graft and no new tumor tissue was observed. No further treatment was required.Periosteal chondroma is an uncommon benign tumor of the hyaline cartilage . It is sOf the 10 reviewed cases of periosteal chondroma of the femur, five were males, four were females and one had no reported gender data. The mean age at the beginning of treatment was 14.67 years , excluding one case in which no accurate age was reported. With regard to the location of the tumor, six cases involved the distal femur, three involved the proximal femur, and one involved the middle femur.Evaluation of the clinical course of periosteal chondroma may aid in its diagnosis. Typically, the first symptom is localised swelling, followed by moderate and prolonged pain (~6 months) . Of the Radiographic features of periosteal chondroma may vary between cases. The mass typically arises from the surface of bone, exhibiting scalloping of the cortex and a well-defined margin between the tumor and bone . Tumor sHistopathologically, periosteal chondromas exhibit a prominent lobular arrangement of hyaline cartilage extending from the periosteum into the adjacent cortical bone . They arThe differential diagnosis of periosteal chondroma in this location includes chondrosarcoma, osteochondroma and periosteal osteosarcoma. Compared with periosteal chondromas, chondrosarcomas are generally greater in size and occur in older patients (>50 years of age); extension into the soft tissue may also be observed . OsteochA previous literature review revealed that, among 165 cases of periosteal chondroma, six reported local recurrence (a recurrence rate of 3.6%) . Of the


To investigate the clinicopathological characteristics and possible causes of solitary necrotic nodule of the liver (SNN), two cases of SNN of the liver were studied with clinicopathological data, immunohistochemistry, and histochemistry staining. The patients had no specific symptoms, with negative results for the serum tumor markers. CT and ultrasound all showed low-density lesion. Morphologically, there was isolate, single necrosis tubercle of the liver. It was composed of a central necrotic core and a peripheral fibrotic capsule with inflammatory cells, including histiocytes, plasma cells, lymphocytes, and so forth. The staining result of PAS, acid-fast, and iron was all negative, and AG + VG staining showed that the outline of reticular fibers and collagen was intact. Vimtin was positive for necrotic tissue and surrounding fibrous tissue. CD34 and CD68 was both positive for case 1. CK was negative in case 2 but positive for a few residual cells in case 1. SNN of the liver is a rare nonmalignant disease with a good prognosis. Hemangioma and fatty liver might be ones of the causes of SNN. Solitary necrotic nodule (SNN) of liver is a rare benign disease which was first described by the Shepherd and Lee in 1983 [Case 1, female, 35 years old, no obvious symptoms, SNN was accidentally found in 2006 through physical examination, all the parameters by laboratory tests were all normal, including routine blood test, serum electrolytes, liver function, and serum twelve tumor markers. HAV, HBV, and HCV were all negative. Computer Tomography (CT) showed multiple small hemangiomas of the patient's right hepatic lobe and one low-density lesion under the right hepatic lobe capsule . B-ultraLight microscope: the central part of nodule was eosinophilic coagulation necrosis lesion which could be seen a small amount of cell ghosts of remaining liver cells and multinucleated giant cells. In the meanwhile, the stove gathered inflammatory cells could also be seen, which included lymph cells, histocytes, neutrophils, and plasma cells. Fibrous tissue wrapped around the necrotic area, in which fibrous tissue produced hyperplasia with hyaline degeneration, accompanying infiltration of inflammatory cells including small-to-moderate amount of lymphocytes, and some eosinophils, plasma cells, monocytes, and multinucleated giant cells . The livImmunohistochemistry and histochemistry staining: periodic acid-Schiff reaction (PAS) was negative, negative for acid-fast staining and iron staining, and Ag + Van gieson (Ag + VG) staining showed that the outline of reticular fibers and collagen was intact . Vimtin Case 2, male, 46 years old, due to traumatic right rib fractures, one lesion was found in the left lobe of the patient's liver through CT and B-ultrasonography in 2008 see . LaboratDuring the operation, the left lobe liver looked slightly hypertrophic, accompanying surface concave, a mass with approximately 2 cm in diameter was seen. The mass and around 2-3 cm liver was resected. Gross examination: there was one grey red irregular liver tissue with the size of 4.5 cm × 3.0 cm × 2.5 cm. A 1.8 cm gray nodule on the section with clear boundaries and qualitative toughness was observed. Light microscope: the central nodular area was eosinophilic coagulation necrosis, in which there were fat ghosts and cholesterol crystals. The surrounding fibrous tissue was hyperplasia with hyaline degeneration, in which moderate amount of lymphocytes and a small amount of plasma cells, eosinophils granulocyte, infiltrated. There was narrow homogeneous hyaline zone between fibrous tissue and necrotic areas .The liver tissue surrounding the nodule was mild edema, cholestasis, and notable steatosis. Fibrous tissue of portal area was mild hyperplasia with a few of lymphocyte infiltration. Sublobular and interlobular veins were expansive. Immunohistochemistry and histochemistry staining: the staining result of PAS, acid-fast, and iron was all negative, AG + VG staining showed that the outline of reticular fibers and collagen was intact . Vim wasSolitary necrotic nodule of liver is an uncommon disease and often would be easy to being diagnosed as a malignant metastatic disease. Most patients had no obvious symptoms, frequently were found out by other diseases, and stumbled to a hospital for examination or physical examination findings. SNN reported in the literature mostly was under the capsule, a small number in the liver parenchyma, and most of patients were located in the right lobe and the minority in the left lobe. The majority of patients were single nodule, and the minority were nodules. Average diameter was about 2 ~ 3 cm; Serum CA-19, CEA and other tumor marker test results were normal . In our Microscopically, all patients all had the typical image: coagulation necrosis of the center part and the surrounding fibrous membrane composed SNN; the fiber membrane accompanied inflammatory cells infiltration including histocyte, lymphocytes, plasma cells, eosinophils, and so forth. PAS, Grocott and acid-fast staining all showed no bacterial, fungal, and parasitic infections –4. In cuThe cause of SNN is uncertain and maybe diverse: SNN might be potentially representing the evolutionary process from various benign diseases, such as infectious abscess, parasitic granuloma, hemangioma (or blood-borne disease), benign tumor, hematoma, trauma, and other benign disease development; about 50% of cases could be found with other types of tumors –6. ImmunIn this cohort of cases, the case 1 accompanied multiple hepatic hemangiomas; the sinusoidal around the lesions of SNN was expanded and full of blood. On the necrotic nodules, there were a lot of small blood vessels ghosts (CD34 positive), focal inflammatory cells aggregated, and CD68 was diffusively positive. We speculated that the formation of the patient's SNN closely associated vascular tumor, alike the Berry  reportinThe case 2 showed fatty liver through ultrasound examination. The patient's blood lipid significantly increased. There was obvious fatty degeneration of liver cells around the lesion. In the necrotic nodule, fatty vacuoles blur and cholesterol crystals had been observed, while lobular and interlobular veins around the SNN significantly expanded, which were possibly related to fatty liver, hypoxia, and ischemia, but that has not been reported in the related literature. So, we still need to further observe and study in larger sample cases. At the same time, the patient had no vascular tumor, and being different from case 1, which suggested that SNN maybe have several causes.In the CT imaging, both the cases showed that low-density lesions and ultrasound suggested low hypoechoic changes. Literatures reported that most patients' ultrasound showed hypoechoic lesions, or accompanying a slight edge of high echo, and all patients were nonhomogeneous echo , 4, 7; CSNN is a rare disease which has not obvious symptoms and potential complications, in the meanwhile, it is not obvious influence on the health ; clinici


Schwannomas are tumours arising from Schwann cells, which sheath the peripheral nerves. Here, we report a rare case of left intrascrotal, extratesticular schwannoma. Although rare, scrotal localisation of schwannomas has been reported in male children, adult men, and elderly men. They are usually asymptomatic and are characterised by slow growth. Patients generally present with an intrascrotal mass that is not associated with pain or other clinical signs, and such cases are self-reported by most patients. Imaging modalities  can be used to determine tumour size, exact localisation, and extension. However, the imaging findings of schwannoma are non-specific. Therefore, only complete surgical excision can result in diagnosis, based on histological and immunohistochemical analyses. If the tumour is not entirely removed, recurrences may develop, and, although malignant change is rare, this may occur, especially in patients with a long history of an untreated lesion. Thus, follow up examinations with clinical and imaging studies are recommended for scrotal schwannomas.A 52-year-old man presented with a 3-year history of asymptomatic scrotal swelling. Physical examination revealed a palpable, painless, soft mass in the left hemiscrotum. After surgical removal of the mass, its histological features indicated schwannoma.Schwannoma should be considered in cases of masses that are intrascrotal but extratesticular. Ultrasonography provides the best method of confirming the paratesticular localisation of the tumour, before surgical removal allows histopathological investigation and definitive diagnosis. Surgery is the standard therapeutic approach. To prevent recurrence, particular care should be taken to ensure complete excision. This case report includes a review of the literature on scrotal schwannomas. Schwannomas are tumours arising from Schwann cells, which sheath the peripheral nerves. Schwannomas can develop in any region of the human body, either sporadically or in association with neurofibromatosis . Most clA 52-year-old man presented with a 3-year history of asymptomatic scrotal swelling. He had a body mass index of 28 kg/m2 at the time of presentation. The patient reported that his scrotum had significantly enlarged during the last 6 months. Physical examination revealed a palpable, painless, soft mass in the left hemiscrotum, approximately the size of an egg. Further, an adhesion had formed between the mass and the left testicle. The lesion appeared not to be attached to the skin of the scrotum or the underlying tissues. The abdominal examination findings were unremarkable, and rectal exploration showed enlargement of the prostate gland without any palpatory pathological findings. The patient did not report any systemic symptoms. Accordingly, the initial diagnostic hypothesis was suspicion of a left testicular tumour. Written informed consent was obtained from the patient for publication of this case report and any accompanying images.The patient underwent scrotal ultrasonography (US), which revealed a hypoechoic solid mass. The mass was 4 × 7 cm in size and had a nodular appearance. It was found in the mid-left hemiscrotum, behind the left testicle, which appeared reduced in size Figure . Left vaBlood tests showed normal levels of alpha-fetoprotein, beta-human chorionic gonadotropin, and carcinoembryonic antigen. Prostate specific antigen levels were also normal.Based on this evidence, we decided to surgically remove the mass, and the patient agreed. A left inguinal 4-cm incision was made, the spermatic cord was clamped, and the testicle was tractioned from the left inguinal ring. The mass presented with some adhesions to the left testicle, but did not infiltrate the testicle Figure . SurgicaThe surgical specimen was immediately measured and found to be 7.1 × 3.8 cm. It comprised a white mass, which was soft and had a regular and translucent external surface Figure A. The spConsiderable cellular proliferation was observed, comprising spindle elements with elongated hyperchromatic nuclei and poorly eosinophilic cytoplasm, separated by abundant oedematous fluid. A myxoid appearance was noted focally . These elements were occasionally arranged concentrically around vessels with thin walls. Areas of necrosis and mitoses were not observed Figure A. ImmunoScrotal masses require a precise diagnosis to prevent therapeutic errors. Among various types of intrascrotal extratesticular lesions, schwannomas have been described previously and have always represented a diagnostic challenge for clinicians. During differential diagnosis of these tumours, clinicians must also consider benign and malignant neoplasms of supporting structures of the scrotum: leiomyoma, leiomyosarcoma, and adenosarcoma .The clinical history of the disease was similar in each of the previous reports that we examined -6. Each Our experience with the reported case and our review of the literature strongly suggest that schwannoma should be considered in cases involving masses that are intrascrotal and extratesticular. US (followed by MRI) is the best modality with which to confirm the paratesticular localisation of the tumour, before surgical removal allows histopathological investigation and definitive diagnosis. Surgery is the standard therapeutic approach, which allows the testicle to be spared in most cases. To prevent recurrence, particular care should be taken to ensure complete excision, especially in cases that involve large or multiple masses. Eventhough it is hard to establish a specific follow-up plan considering the limited number of cases reported in literature, basing on all the experiences reported in literature, in case of benign lesions completely removed it might be suggested a clinical post-operative evaluation at 6 and 12 months. Differently, in case of histopathological suspicious or clear evidence of malignancy, a MRI after 6 months from surgery should be proposed.Early diagnosis can help limit the extent of surgical excision that is required. Further, early diagnosis can prevent the onset of malignant degeneration, which is rare, but has been reported in the literature.Patient has given his consent for the case report to be published. A copy of the written consent is available, at anytime, for review by the Editor of this journal.CT: Computed tomography; MRI: Magnetic resonance imaging; US: Ultrasound.No financial support has been received for this study, and none of the authors have any conflicts of interest pertinent to the content of the manuscript.AC and VP ideated the study. GP, NP, JC, GM, ALP acquired the data. GP and NP drafted the manuscript. AC, GP, ALP, VP critically revised the manuscript. All authors read and approved the final manuscript.The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2490/14/32/prepub


Sarcoma botryoides of cervix is a rare variant of rhabdomyosarcomas (RMS) of female genital tract. It is usually diagnosed in first or second decade of life. In this case report, we aimed to present a 21 year-old nulligravid patient who was diagnosed with embryonal RMS of the cervix, to discuss the treatment options that have been stated in the literature, and to highlight the advantage of fertility sparing management in these young patients.th month. Colposcopic evaluation revealed a local polypoid area, the histopathologic examination of biopsy suggested recurrence even though positron emission tomography scans were unremarkable. Therefore complementary treatment was planned as conization and pelvic lymphadenectomy. The histopathology revealed no residual tumor on the conization material and no involvement of pelvic lymph nodes.We report a 21-year-old nulligravid woman complaining about a mass protruding from introitus, which was represented with a 8×7 cm “grape-like” cervical polyp on speculum examination. The histopathologic examination of the biopsy taken was combined with immunohistochemical staining with desmin, myogenin, S100, vimentin, and myoglobin. Colposcopy, second biopsy, and positron emission tomography were used during the follow-up. The histopathologic examination revealed embryonal RMS of cervix. She received three cycles of combination chemotherapy, doxorubicin and ifosfamide. She refused to have a surgery because of an unplanned, desired pregnancy at two months after the chemotherapy. She was lost during the follow-up. After having an uneventful pregnancy and a successful delivery, she reapplied at postpartum 6Fertility sparing management, including doxorubicin and ifosfamid combination in chemotherapy step, can be management option. Pregnancy and successful delivery is possible during the treatment. Colposcopy has importance for early detection of recurrences. Rhabdomyosarcoma (RMS) is an embryonal mesenchyma originated tumor. Although it is the most common soft tissue tumor in childhood and young adulthood, which accounts for 4-6% of all malignancies in these ages, only twenty five percent of these tumors occur in genitourinary tract, and they are mostly reported as vaginal tumors -   3. SaEmbryonal subtype comprises 50% of the RMS and most commonly originates from the vagina. While vaginal RMS is seen in the first decade of life-generally before two years old, cervical embryonal RMS (sarcoma botryoides) is seen in the second and third decade of life  usually presenting with a submucosal grape like polypoid lesion or rarely infiltrative mass in cervix . We repoA 21-year-old nulligravid patient who had complaints about the feeling of a mass protruding from the vaginal introitus was referred to our clinic. She had had a polypectomy the histopathologic evaluation of which had suggested fibro epithelial polyp and had been recommended no further treatment one year ago. Nine months after her first admittance, she complained about irregular bleeding. On the speculum examination, a macroscopically grape-like polypoid mass in 8×7 cm diameters, which was arising from cervix and filling the lateral fornix was detected and biopsy from this mass was taken. An informed consent has been taken from the patient to report this case.The histopathologic examination revealed the features of a zone of increased cellularity composed of undifferentiated rhabdomyoblasts beneath the surface epithelium on a background of edematous stroma and cambium layer. Immunohistochemical stainings with desmin, myogenin, S100, vimentin, aand myoglobulin, were positive on a rhabdomyoblastic differentiated cells. CD34 and actin stainings were positive on vessel walls. The histopathologic diagnosis was reported as embryonal RMS relying on these findings. MR imaging and CT scan revealed a heterogeneous cervical mass 7×6×6 cm in diameter whose margins cannot clearly differentiated from vagina, but no metastatic disease. She was recommended to receive three cycles of neoadjuvant chemotherapy and subsequent conization with laparoscopic lymph node dissection in order to preserve fertility. She was administered three courses of chemotherapy, with doxorubicin 150 mg daily, ifosfamid 4 gr daily and mesna 3600 mg daily. She received three courses with three weeks intervals without any delay. Four weeks after neoadjuvant therapy, she was admitted for the operation as planned, however her thyroid functions were impaired and inadequate for surgery. Hence, the surgery was delayed three weeks to adjust the thyroid functions medically. During this period, she became pregnant incidentally so did not accept any further treatment. She had an uneventful pregnancy and a successful caesarean section on term. She did not apply for follow up until sixth month after delivery. When she reapplied, colposcopic evaluation revealed a local polypoid area less than 1 cm in diameter. The histopathologic examination of biopsy from this area suggested recurrence even though positron emission tomograph scan was unremarkable. Therefore complementary treatment was performed as simple conization with laparoscopic pelvic lymph node dissection. The final histopathology results revealed no residual tumor on the conization material and no involvement of pelvic lymph nodes. Follow up is planned as colposcopic examination every six months in the first year. et al put forward that cervical sarcoma botryoides has a similar prognosis to the other embryonal RMS of the genital tract and that chemotherapy and response-dependent surgery should be the treatment of choice in 1987. However, in 1988, Daya and Scully reported that sarcoma botryoides of cervix has a more favorable outcome comparing with its counterpart in vagina or uterus and polypoid lesions have better prognosis, hence local excision procedures followed by chemotherapy may be considerable for these patients (Since 1950s, treatment of sarcoma botryoides has dramatically changed. In the late 1950s and 1960s pelvic exenteration was recommended to be the first choice of therapeutic approach whereas today, treatment modalities range from polypectomy, conization, cervicectomy, trachelectomy up to radical hysterectomy depending on the extension of the tumor and necessity for fertility preserving . Brand eet al (et al (In 1990s, treatment modalities have mostly been shifted towards organ sparing surgeries like local excision, polypectomy, cervicectomy, conization with or without chemotherapy so that they could abandon radical surgery associated morbidity. The survival rates increased from 25% in 1975 to 65% in 1995 . This feet al . After tet al -17. Therl (et al . Neoadjuvant setting was also for reducing the tumor size to be able to apply a fertility preserving surgery. It was also reported that normal menstrual function start again between 36 and 38 months following initial diagnosis in three cases treated with this combination . In our et al (In our case cervical smear was negative but colposcopy directed biopsies were positive. This was also in favor of the conclusion of the study which suggest the use of updated follow-up techniques for early detection of persistent/recurrent tumor by Zanetta et al . No tumoet al . We deciIn conclusion the median age of the patients with sarcoma botryoides obligates us to keep closer to fertility sparing managements. Fertility preserving can be a possible option in these cases. Doxorubicin and ifosfamid combination can be an option in chemotherapy step of fertility sparing management. Close follow-ups with colposcopy have utmost importance for early detection of recurrences. We declare that we have no conflict of interest.


Circulating Tumor Cells (CTCs) are promising biomarkers for monitoring solid cancer and were used to monitor brain tumors. Here we report two cases in which, for the first time, CTCs were used in cytological diagnostic evaluation to discriminate a space-occupying lesion of the brain.Two cases of focal intracranial lesions, unclassified for diagnosis, untreated and apparently symptomatic, were examined after high-contrast resolution Magnetic Resonance Imaging and/or Computed Tomography scans. CTCs were seeded on chamber slides and short-time expanded under the optimized conditions as we previously reported. The first case was a focal lesion localized in the parietal-occipital area in a 67-year-old woman. The second case was a 31-year-old man with an expansive intracerebral lesion localized in the left peri-trigonal area. Both patients underwent excisional biopsy. Histopathological evaluation of the biopsy confirmed the previous cytological diagnoses, and the analysis of the clinical outcomes retrospectively validated both diagnoses.The cases here reported illustrate the potential for using expanded CTCs as non-invasive, real-time biopsy. Moreover, non-invasive real-time biopsy can represent an alternative diagnostic tool to be used when a functional area of the brain is at risk of injury from excisional biopsy procedures. The use of new technologies to detect Circulating Tumor Cells (CTCs) in the bloodstream of cancer patients has resulted in a better understanding of the biology of solid cancer and related circulating progeny . It now In intracranial pathologies, a further limit in the use of CTCs as biomarkers is set by the prevalent detection of CD326 expression through the most used technique, Cell Search. Indeed, tumor cells in endocranial tumors lose or do not express CD326 . As a reWe have previously described an optimized protocol to isolate and short-time expand CTCs derived from cancer patients , 15.The protocol involves the isolation of CTCs from peripheral blood as shown in Fig. Here, we report two cases of intracranial tumor whose sizes range between 0,5–4 cm, and in these cases we have isolated CTCs and recovered them on chamber-slides for a short-time culture. CTC-slides were then used for cytological evaluation . These cIn November 2013 a 67-year-old female with negative familiar history for any type of tumor lamented asthenia, mental confusion, memory disturbances, dizziness, decreased vision and partial right homonymous hemianopsia. These symptoms gradually worsened over a period of a few days. The patient was referred to us for observation accusing the above symptoms and she underwent a complete neurological investigation. The results of the investigation excluded a deficiency in the cranial nerves and an Magnetic Resonance Imaging (MRI) scan was requested. A pre-operative MRI was performed which highlighted an expansive lesion altering the signals at the left temporal lobe and the left posterior occipital lobe Fig. . The prepos) as previously demonstrated for other type of tumors [A ring contrast-enhanced lesion localized in the left occipital region with intralesional hypointensity are not pathognomonic for glioblastoma. At the same time the site, the compression on the ventricle, the oedema and the persistent symptoms made the patient a candidate for surgical intervention to remove the lesion tissues. The initial patient’s performance status according to the Eastern Cooperative Oncology Group (ECOG) was classified as ECOG = 1. During the pre-operative phase, as well as the routine blood tests, a sample of peripheral blood in EDTA was taken for analysis of the CTCs. Peripheral blood sample is collected to detect CTCs. We used whole peripheral blood pre-treated with a red cells lysis solution Fig.  and in pf tumors , 16.After 14 days of CTCs expansion, the chambers were eliminated and the adherent cancer cells were fixed with Cytofix aerosol preparation for pathological analysis. The pathologist diagnosed an high grade astrocytic tumor due to neoplastic cells with gemistocytic pattern and nuclear atypia, in Haematoxylin and Eosin (H&E) stained slide Fig. .In December 2013 the patient underwent a bulk resection of the lesion: a left parietal-occipital craniotomy was performed and no complications were found after surgery. Post-surgery recovery was satisfying, the management of the patient during the post-surgical phase did not present significant problems; antioedema and antibiotic therapies were administered and the patient recovery time was 10 days. The patient was dismissed 10 days after surgery. The clinical symptoms disappeared except for the persistent right homonymous hemianopsia. The cancer tissue excised during surgery was analysed by a pathologist Fig. .The pathologist diagnosed a multiform glioblastoma due to neoplastic tissue with severe atypical astrocyte proliferation in presence of mitosis and microvascular proliferation. This diagnosis was confirmed using immunohistochemistry techniques.The specialists advised adjuvant “whole brain” radiotherapy. Total radiotherapy dose was 60 Gy delivered in 30 consecutive days associated with temozolomide.The patient tolerated the antitumor therapy well without showing modification of the initial performance.pos/ml, compared to the first blood sampling .In January 2014 a second peripheral blood sampling for CTCs isolation was performed. The cytological analysis of the resulting slide highlighted the persistence of CTCs in the peripheral blood, with an increased concentration of 7 CTCs-VimentinAfter 9 month of apparent wellness and clinical benefit, in October 2014 the patient returned to us complaining difficulty in maintaining a standing position, urinary incontinence and further reduction in vision that led to complete hemianopsia. A brain MRI revealed a recurrence of the tumor which showed as an irregular area with increased absorption of the contrast. In particular, T2-hyperintense and T1-hypointense highlighted perifocal oedema in left parietal-temporal-occipital area. The ipsilateral occipital horn appeared partially dislocated, while the hippocampal cortex, the hippocampus and the midbrain appeared dislocated to the left, with a slight shift of the midline Fig. . The patIn May 2015 a 31-year-old man presented with a one-month history of headaches associated with phonophobia and photophobia, dizziness and short term memory deficits. On admission, he was somnolent and disoriented. He had bilateral papilledema and left homonymous hemianopsia.3 white blood cell count, 558 UI/Lactate dehydrogenase (LDH). Cerebrospinal fluid analysis showed high values in proteins and glucose whereas the cytology was negative. Computed Tomography (CT) scans showed a cystic expansion entrapping the temporal horn of the left lateral ventricle with an extensive periventricular hypodensity area and controlateral dislocation of the ventricular system.Laboratory examinations showed 14500/mmPreoperative imaging demonstrated that the primitive lesion displayed a high density on CT scans. Contrast-enhanced MRI showed a T1-hypointense and T2-hyperintense lesion. The signals were significantly enhanced by the contrast Fig. .The patient was advised to undergo stereotactic biopsy procedures. During the pre-operative phase, a blood sample was collected for CTCs detection. The resulting slides were analysed by the pathologist who suspected a lymphoma for the morphology of neoplastic cells highlighted by H&E staining Fig. . The patIn the following days the patient underwent a whole body fluorodeoxyglucose (FDG)-positron emission tomography (PET) that, despite its spatial and biological limits of resolution, showed no areas of pathological increase in glucose metabolism in the body regions examined. FDG-PET brain did not recognize areas of significant alteration in glucose metabolism in various cortical, subcortical and subtentorial districts. These data confirm that the lymphoma is primitive and exclusively of the brain.pos large B cell lymphoma with high proliferation index (Ki67 Positivity) greater than 70 %. Subsequently, the patient was referred to our medical oncology outpatient clinic where he was followed carefully. The external ventricular shunt was removed because of the high risk of infection. Chemotherapy cycle was prescribed with the following scheme: rituximab 375 mg/mq on day 1, methotrexate 3500 mg/mq on day 2, cytosine arabinoside 2 gr/mq doses twice daily on day 2,3, thiotepa 30 mg/mq on day 4 . Treatment was generally well tolerated by the patient and currently (follow up after 8 months MRI in Fig. On histopathological examination of the surgical specimen Fig. , the iniIn our limited experience, there are no obvious pathological difference between excisional and liquid biopsy in diagnostic evaluation of space-occupying brain lesions, as confirmed in the cases presented here. In the excisional biopsy, the tissue organization can address the diagnostic procedure better than the cytological samples obtained through the liquid biopsy. On the other hand, as demonstrated in these cases, this condition is not strictly needed to formulate a correct diagnosis. In the first case, we were able to identify the mesenchymal phenotype of circulating tumor cells, consisting in Vimentin expression. This information implemented with neuroimaging has strongly suggested the early diagnosis of high grade astrocytic tumor. This multidisciplinary approach, in both cases, was able to highlight the nature of the primary lesion. Moreover, in case 1, the Vimentin-positivity of CTCs was also used in a personalized monitoring of the patient, allowing an early detection of the disease recurrence.Furthermore, many neurological disorders can mimic clinically a tumor and there are diseases in which the neuroimaging is not sufficient to solve diagnostic problems.The cases reported here show the possibility of discriminating intracranial pathology through a simple blood test. The possibility of performing non-invasive biopsy procedures to obtain real time precious information can be considered an improvement for an early diagnosis of brain lesions.In every phase of neoplastic pathology it is useful to have a source of tumor cells which permits the characterization of the same. In fact, during chemotherapy or radiotherapy, we apply selective pressure that modifies the tumor cells identified prior to administrating the antitumor therapies. The availability of CTCs allows us to perform a personalized monitoring of the disease progress via both tracking the number of cells and cell characterization. Moreover, the cost-effectiveness analysis of the management of these cases suggest that using CTCs as non-invasive real–time biopsy, the costs currently employed in analogue cases by Health Service can break down of 70 %.The protocol proposed here guarantees, respect to other current methods, that the cell isolated are neoplastic and representative of the primary lesion. In this study, we focalize on the CTCs phenotype but, this protocol can be also used for genotyping, DNA/sRNA analysis, and external vesicle production, with the advantage to discriminate the cancer cells from contaminating hematological cells. More cases must be studied to confirm these preliminary results.BBB, blood brain barrier; CT, computed tomography; CTC, circulating tumor cells; ECOG, Eastern Cooperative Oncology Group; FDG-PET, fluorodeoxyglucose-positron emission tomography; H&E, haematoxylin and eosin; LDH, lactate dehydrogenase; MRI, magnetic resonance imaging; Positive, pos


To re-evaluate the fluoroscopic findings of venous malformation by cine mode cisternography.Using direct injection cine-cisternography, we studied 49 venous malformation lesions in the head and neck of 30 patients who were scheduled to undergo ethanol sclerotherapy. The diameter of definitively measurable 46 lesions was 21.7 ± 10.5 mm . The injection was continued until the draining veins were clearly observed. Outflow communications between cisterns and systemic veins were classified into Type 1, no visible drainage; Type 2, draining into a normal venous system; and Type 3, with abnormally ectatic draining veins. The topological relationships of the lesions to surrounding structures were addressed using computed tomography, magnetic resonance imaging or ultrasonogram. Treatment results were evaluated.The direct injection cine-cisternography showed the typical ‘bunch of grapes’ pattern, and revealed serial cisternal, followed by the appearance of outflow/draining veins in all lesions. There were no Type 1, 47 Type 2 and two Type 2 outflow pattern. Satellite lesions emerged via the communicating veins in six lesions. Of the all 49 lesions, 48 were located in or on the muscle fascia. Sclerotherapy was safely completed in all Type 2 lesions with satisfactory results, but for the Type 3 lesions treatment was limited to be partial to avoid complications.The present study suggested that communications from venous malformation to the systemic vein are fluoroscopically confirmable. These radiographic findings were thought explainable in relation to developmental nature or facilitating process of venous malformation. Venous malformation is a low-flow type vascular malformation and is generally characterized by multiple ectatic vascular cavities filled with blood, found most commonly in the head, neck and extremities.14 which enables the distinction of venous malformations from other types of low-flow malformations and varicose veins.5 Another characteristic clinical finding of venous malformations is observed as emergence of a cheek or perioral mass during mastication.The characteristic radiographic appearance of multiple ectatic cisterns is termed the ‘bunch of grapes’ sign on direct injection cisternography,7 report that approximately one-third of venous malformations has no recognizable communications with systemic vessels.7 However, it is generally considered that the venous malformation lesion is an embryonic vascular structure remnant along the venous system development (bud theory).14 According to this theory its outflow is all connected to the normally developed vein system. We thought a diligent fluoroscopic observation may visualize the connections, and to elucidate further radiological details about the flow and connections.Previous radiographic observations on venous malformations8 and triggering or promoting molecular 10 or rheological processes in some types of vascular malformations or varicose veins (e) have been reported. In the development of venous malformation to form the typical shape of multiple balloons, some rheological condition may be required but not much has been discussed.To date, several underlying genetic factors1113 We conducted a single arm prospective cohort study to re-evaluate the fluoroscopic findings by means of cine mode cisternography with continuous injection until optimal visualization of communicating vessels was achieved. We also inspected the existence of nearby or surrounding muscles that might act as a rheological stressor, and relationship of the radiographic findings and the treatment outcome.Direct injection cisternography is a commonly used radiological method for diagnosing venous malformation, and also for evaluation of cisterns and communicating vessels before sclerotherapy.15We studied 30 patients who were suspected of venous malformations in the shoulder, head and neck, and scheduled to undergo direct injection cisternography prior to sclerotherapy, between 2000 and 2010. They consisted of 14 men, 16 women; age range, 5–86 years; median age, 33 years and had total, 49 lesions. All were in perfect health status except for lesions of venous malformation and no underlying abnormality was found in routine haematological studies prior to the cisternography. The definitions of venous malformations were according to the 2003 ISSVA  classification.17 on MRI.All lesions were previously examined with ultrasonography and/or computed tomography (CT) and/or magnetic resonance imaging (MRI) studies to confirm the presence of features considered typical of venous malformation: clearly margined hypoechoic area on brightness mode (B-mode) ultrasonography and no distinguishable high-flow signal from the background on power Doppler mode, soft tissue attenuation and occasional calcification on CT, low-to-moderate signal intensity on T1-weighted images (WI) and various signal intensities on T2WIInformed consent was obtained from all patients prior to cisternography and sclerotherapy. Biopsy was not performed because of the risk of haemorrhage.The procedures followed were performed at our institution as routine medical practice, and were in accordance with the ethical standards on human experimentation  and with the principles of the Helsinki Declaration. The study was approved by our institutional Ethics Committee.After local anaesthesia by subcutaneous injection of 1% lidocaine hydrochloride, the lesion was directly punctured with a 24- or 26-gauge plastic cannula needle (set of inner needle and plastic outer cannula). Leakage of blood from the cannula indicated successful puncture. After evacuation of the lesion by manual compression and drainage through the cannula, contrast medium (Iopamidol 300:300 mg iodine/mL) was injected under subtraction fluoroscopic observation. Injection was stopped if the patient complained of pain.18 indicated a radiological diagnosis of venous malformation.To enable clear visualization of the communicating channels, injection speed was controlled manually to maintain appropriate opacification of the lesion. Injection was continued until optimal visualization was achieved. Images were captured at two or three frames per second. The best images were expected during the first injection of contrast material because retained contrast material had a masking effect. Filling of the multilocular cavity to reveal a ‘bunch of grapes’ appearanceet al.19: Type 1, no visible drainage; Type 2, draining into a normal venous system; and Type 3, with abnormally ectatic draining veins.We classified communication patterns between cisterns and systemic veins according to the system of Dubois We inspected that whether muscles are existing around the close vicinity of, or surrounding the lesion using CT, MRI and ultrasonography. Additional physical tests were conducted to examine whether lesion size was affected by gravity or by intentional contraction of nearby or surrounding muscles such as masseter.2-surface area of the lesion to avoid excessive injection. The injection was ended when the ethanol spread over the target lesion, or when the patient complained of pain. No further ethanol injection was added once it was ended. When the ethanol dose was thought to be insufficient a further injection was considered after four weeks later. After the ethanol injection, 300–500 mg acetaminophen tablet was given on pain.Ethanol sclerotherapy to venous malformation was indicated for management of pain, bleeding and disfigurement by the lesion. While there is still remaining contrast medium in the cavities, an absolute ethanol was carefully injected through the plastic cannula into the lumen under fluoroscopy. Gradual filling with the ethanol was monitored. In our institution, the dose of ethanol was tentatively limited to less than 1 mL per 1 cmTherapeutic effects were evaluated four weeks later, and which was classified into three categories: excellent, disappearance of complete (100%) or over 90% area of the malformation; partial, shrinkage of 50% or more; and weak: less than 50% or not precisely evaluable.All patients had a history of slow-growing mass that had developed over a period of years. The symptoms were apparent mass in all 30 patients, occasional pain in 12, bulging on muscular exercise including mastication in six, posture-dependent bulging in three and haemorrhage in two. Two masses developed during pregnancy.On physical examination, all masses were soft, non-palpitating, easily collapsible by manual compression and spontaneously refilled when relaxed. Three appeared as bulging masses on the cheek during mastication. There were 21 lesions in the oral area, 18 facial lesions, two loci and three fused multiple lesions in the neck and five lesions on the shoulder/hand. Excluding the three fused multiple lesions, the diameter of the 46 lesions was 21.7 ± 10.5 mm (mean ± standard deviation), ranging from 6.0 to 48.0 mm. No flow signals were detected in the mass by power Doppler ultrasonography.3 per second, and filling was completed within 5–20 seconds depending on the size of the lesion and the injection rate. There were no examination-related adverse events. The hallmark ‘bunch of grapes’ appearance was confirmed in all lesions  to the neighbouring cistern(s) Fig. . The cisIn all lesions, draining veins were clearly visualized during continuous injection Figs. 1; Table 1Of 49 lesions, 48 were located in and/or on muscle tissue Figs. ; Table 2Sclerotherapy was completed in all 46 Type 2 lesions, but for the Type 3 lesions the treatment was limited to partial. Mass reduction effect was excellent for all Type 2 lesions, and partial in all Type 3. All patient obtained symptomatic improvements: there was no occasional pain due to the venous malformation, no bulging on muscular exercise including mastication, no haemorrhage after the treatment. Posture-dependent bulging was also disappeared at the treated site and weakly effective even at the vicinity untreated lesions in the three huge lesions.During the follow-up period over of 6.5 years , there has been no further episode of pain or haemorrhage after the treatment in all patients, no bulging on muscular exercise or posture-dependent bulging except the huge case. One lesion relapsed was located at tooth extraction space which had no vicinity muscles.15 so that its outflow/drainage should be all connected to the normally developed vein system, and their growth might be stimulated or promoted afterward.The aetiology of venous malformations remains still mysterious. To date, the venous malformation is thought as an embryonic vascular structure remnant along the venous system development13 This suggest some lesions conventionally classified as Type I20 with radiographically solitary cisterns might have shown fine or moderate communication channels.Continuous injection revealed communication channels with systemic veins in all lesions; after injection was stopped, the contrast material flushed out and most of the draining veins became invisible, leaving only residual contrast in the cisterns as typically shown in Fig. We found several small satellite lesions visualized via connected veins in several of present cases, where some were close to the main bunch and others apart Figs.  and 3, aThe cisterns appeared serially one to another or, to several others. It was difficult to perfectly track the fluoroscopic appearance; instead, we postulated possible patterns of cistern filling to explain viciousness of the seriality Fig. .Figure 21 All lesions we observed were located in or on the muscles. Though it is still imaginary, but we may speculate that rheological stress originating from the muscle functioning as a pump may be one of the important facilitating factors and which wanes with weakening of muscles.The development of ballooning disfigurement of cisterns may be facilitated by many factors. Muscles are well known to function as a pump: lesions in the masseter muscle inflated during eating of the juvenile. Frequent incidence of intramuscular venous malformations has been reported previously.The present study suggested that communications from venous malformation to the systemic vein are fluoroscopically confirmable. These radiographic findings were thought explainable in relation to developmental nature or facilitating process of venous malformation.


Gossypiboma is an inflammatory reaction to a foreign body, specifically composed of a cotton matrix left behind after surgery. The present study aims to present a case report of gossypiboma 23 years after a dental surgery and to make a literature review of the English language cases published on the issue. A 42-year-old woman was attended to evaluate complaints of pain on the right side of the maxilla. The patient reported that dental extractions in this region had been performed over a period of nearly 23 years. The panoramic radiograph demonstrated an opacity in the right maxillary sinus, which presented a spongiform aspect, irregularly shaped radiopaque image, as well as a rupture of the maxillary sinus’s lower cortical layer. A surgical excision was performed, and the histopathological diagnosis was of gossypiboma. Six similar cases have also reported of gossypiboma in the oral region; however, calcification was only identified in the present case report. The patient is currently undergoing follow-up and has presented no complaints of pain or recurrence. Key words:Gossypiboma, textiloma, muslinoma, gauzoma, oral region. Gossypiboma is derived from the Latin “gossypium”, the genus of cotton plant types and from boma, a Swahili word meaning “place of concealment.” This term is applied to the inflammatory response caused by the introduction of a foreign body . GossypiPhysical surgeries with large openings, including abdominal, otorhinolaryngology, plastic, orthopedic, and cardiothoracic surgeries, have all reported cases of gossypibomas ,5. PriorThe present study aims to report on a case of gossypiboma in the maxillary sinus after a 23-year period of tooth treatment and extraction, as well as presents a literature review of case reports in the English-language concerning gossypiboma in the oral region.A 42-year-old woman was attended to evaluate complaints of pain on the right side of the maxilla. The patient’s medical history included hypertension, gastric ulcers, dizziness, and fainting, all controlled with medication. Extraoral examination revealed no abnormalities. The patient reported pain in the maxilla, which had begun two years ago and which had become more intense in the last two months. This pain was accompanied by a pus secretion from the lesion, which often presented a foul smelling secretion within the nasal discharge. Nearly 23 years before, the patient had undergone dental extractions in this same dental region, producing a complication within the maxillary sinus that had not been previously addressed. Intraoral evaluation revealed an edentulous maxilla with a fistula in the right molar region, which presented a purulent, foul-smelling drainage. The patient does not use removable upper dentures, but pain was reported during palpation. The panoramic radiograph presented an opacity on the right maxillary sinus and a homogeneous, slightly circular with ill-defined borders, radiopaque image, measuring approximately 2.0 x 2.5 cm. In addition, a rupture of the lower cortical layer could also be observed Fig. .The differential clinical-radiographic diagnosis included either inflammatory or infectious processes, such as chronic sinusitis caused by oroantral perforation, the formation of fungus balls [mycetoma or aspergillosis], the presence of a foreign body, or large antroliths. Cementoblastoma, complex odontoma, calcifying epithelial odontogenic tumors, fibrous dysplasia, calcifying cystic odontogenic tumors, and osteosarcoma were found to be less possible options.Surgical exploration for the biopsy was performed. However, because of the intraoperative condition, in which the lesion was well-defined and could be easily excised, the lesion was surgically removed Fig. . A fibriIn follow-up, the patient was again questioned about her prior surgeries. Was reported that they had been quite traumatic and that had to return to the dentist repeatedly to stop the bleeding and put this “thing” [as the patient called it] in place of the extracted teeth. This information made it clear that the proper diagnosis was of gossypiboma.A panoramic radiograph was taken 15 days after this final surgical procedure. No remnant of the gauze could be observed. What could be observed was a partial opacity of the maxillary sinus, which was compatible with the inflammation in the region Fig. . The patA review of the English language literature in the PUBMED database was carried out on case reports of gossypiboma in the oral region and the maxillary sinus, using the following keywords: gossypiboma, textiloma, muslinoma, and gauzoma. Six cases were found, as shown in The patients ranged between 27 and 60 years of age, and were predominantly female. Three cases of gossypiboma were reported after having undergone plastic surgery of the mandibular contour , and yetet al. [2009] (The formation of gossypiboma is directly linked to iatrogenesis in surgical procedures, in such a way that the chances of identifying a gossypiboma after major surgery are higher, since the gauze used are larger in both size and number. Swelling and improper closing of the surgical wound, with drainage of a purulent discharge, are indicative of inflammation or infection, which may not be related to the presence of a foreign body. Song . [2009]  cited 2 Considering all the cases, the longest time in which the gauze was retained in the oral region was of 8 years , whereasPanoramic radiography, CT, magnetic resonance, and/or ultrasound contribute significantly to the diagnosis of gossypiboma. The radiographic features of gossypiboma are not well-defined. It could be observed that gossypiboma depends on the local reaction to the foreign body, the composition of the gauze, the containing or not of a radiopaque marker, and the retention time. These factors can also lead to misdiagnoses . In the In the oral region and maxillary sinus, there are several pathological processes with images and clinical symptoms that are similar to those caused by gossypiboma. According to the region and radiographic features found in cases in the literature, the differential diagnoses of the gossypiboma included: the recurrence of cysts in the maxillary region salivary fistula [submandibular], residual cysts or cystic ameloblastoma [retromolar region], and surgical wound infections [mandibular contour].Histological examination is important in determining the diagnosis of gossypiboma. Sigron and Locher [2011]  reportedTreatment of the gossypiboma in the oral region consists of eliminating the inflammatory process by surgically removing the gauze, especially in symptomatic cases. Gossypiboma detected in other regions of the body sometimes it is left untreated, due to the absence of clinical symptoms . This coFew case reports on gossypiboma after dental surgery can be found in English-language literature. Dental professionals need to pay closer attention when performing intraoperative procedures so as to minimize the chances of gauze retention in the oral region. Moreover, professionals should properly diagnose this disease, given that it commonly presents clinical signs and radiographic results that can easily be confused with other pathologies in the oral region.


HSD17B3 gene in homozygosity. The dilemma of sex reassignment was seriously considered when the diagnosis was made. During all procedures the patient was accompanied by a child psychiatrist/psychologist. The teenager desired to continue being a female, so gonadectomy was performed. Estrogen therapy and surgical procedure to change external genitalia was carried out. In this case, there was a severe virilization at puberty. It is speculated to be due to a partial activity of 17βHSD3 in the testicles and/or extratesticular ability to convert Δ4 to testosterone by 17βHSD5. Prenatal exposure of the brain to androgens has increasingly been put forward as a critical factor in gender identity development, but in this case the social factor was more important for the gender assignment.The development of male internal and external genitalia in an XY fetus requires a complex interplay of many critical genes, enzymes, and cofactors. The enzyme 17β-hydroxysteroid-dehydrogenase type 3 (17βHSD3) is present almost exclusively in the testicles and converts Delta 4-androstenodione (Δ4) to testosterone. A deficiency in this enzyme is rare and is a frequently misdiagnosed autosomal recessive cause of 46,XY, disorder of sex development. The case report is of a 15-year-old adolescent, who was raised according to female gender. At puberty, the adolescent had a severe virilization and primary amenorrhea. The physical examination showed a male phenotype with micropenis and blind vagina. The Tanner stage was A3B1P4, nonpalpable gonads. The karyotype revealed 46,XY. The endocrinology study revealed: testosterone=2.38 ng/ml, Δ4>10.00 ng/ml, and low testosterone/Δ4 ratio=0.23. Magnetic resonance imaging of the abdominal–pelvic showed the presence of testicles in inguinal canal, seminal vesicle, prostate, micropenis, and absence of uterus and vagina. The genetic study confirmed the mutation p.Glu215Asp on In this case, we highlight the late diagnosis, probably because the patient belongs to a poor family without proper primary medical care.We emphasize the psychological and social aspects in the sex assignment decision. Disorder of sex development (DSD), is defined as a congenital condition in which development or chromosomal, gonadal, or anatomical sex is atypical, therefore 46,XY DSD refers to a condition in which a child has a 46,XY karyotype, but in whom gonadal or anatomical sex is atypical The development of the male internal and external genitalia in an XY fetus requires a complex interplay of many critical genes, enzymes, and cofactors HSD17B3 gene HSD17B3 gene confer a spectrum of 46,XY disorders of sexual organ development, ranging from completely undervirilized external female genitalia, predominantly female, ambiguous, to predominantly male with micropenis and hypospadias. The most frequent presentation of 17βHSD3 deficiency is a 46,XY individual with female external genitalia, labial fusion, and a blind ending vagina, with or without clitoromegaly.The enzyme 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) is present almost exclusively in the testes and converts Delta 4-androstenodiona (Δ4) to testosterone. A deficiency in the 17βHSD3 enzyme is rare, and frequently misdiagnosed as autosomal recessive cause of 46,XY DSD. This disorder was first described in 1971 The diagnosis can be easily missed in early childhood as the clinical presentation may be subtle. If the condition is not diagnosed early, patients present with severe virilization and primary amenorrhea in adolescence and may undergo a change from female to male gender role. A low testosterone/Δ4 ratio on baseline or human chorionic gonadotropin (hCG) stimulation testing is suggestive of 17βHSD3 deficiency. The diagnosis can be confirmed by molecular genetic studies.HSD17B3 in homozygosity.A 15-year-old adolescent was raised according to female gender. The patient had no significant past medical or surgical history. The family history was negative, non-consanguineous parents. At puberty the adolescent had primary amenorrhea and a severe virilization with deep voice, masculine muscular development, increased growth of body, and facial hair. The physical examination showed a male phenotype with micropenis and blind vagina. Her breasts were Tanner stage 1, pubic and axilar hair was Tanner stage 4 with nonpalpable gonads . The karThe decisions about the management of the present case were made after interviews with the adolescent and her parents and in consultations among the endocrinologist, the surgeon, and the psychiatrist. During all procedures, the patient was accompanied by a child psychiatrist/psychologist.The clinical course, the hormonal profile, and the karyotype  were compatible with the diagnosis of 17β HSD3 deficiency, which was confirmed by DNA analysis. Upon discussing the possibilities for gender assignment, the father and the adolescent strongly opposed gender reassignment, expressing considerable fear of the social repercussions, especially considering the fact that they were members of a very small community. The teenager showed the desire to continue being a female, because she identified herself as a female. The pediatric surgeon explained all the procedures and the fact that if she wants to continue as a female it would eliminate the possibility of fertility. At the age of 16 years, gonadectomy was performed along with the surgical procedures to change external genitalia . At thisAfter surgery and estrogen therapy she returned for a follow-up visit in a pleasant mood, more talkative, and dressed in very feminine clothes. She had breasts development under estrogen therapy. She did not express any regret about the surgical intervention, reported that her mood is consistently good and that socialization had significantly improved. She was no longer stigmatized, which is traumatic for DSD people.HSD17B3 gene have been reported to date. The mutation p.Glu215Asp was found in three children (white Brazilian and English) with 46,XY DSD, one female with ambiguous genitalia at birth, male behaviors in child, and pubertal virilization, absence of menses and male gender role in another In the literature, 28 mutations in the The risk of misdiagnosis is especially problematic because the clinical findings in 17βHSD3 deficiency may mimic androgen insensivity syndrome in childhood and 5α-reductase deficiency in puberty. Thus, correct diagnosis should be made early so that treatment, management, and genetic counseling can be specifically directed toward 17βHSD3 deficiency.HSD17B3 gene may go unnoticed at birth since female external genitalia is common The patients with mutation in the At the time of puberty, patients initially raised as females and who have not undergone gonadectomy display primary amenorrhea, varying degrees of virilization including development of male body habitus, increased body hair, and deepening of the voice; in some individuals, it prompts a change to a male gender role. This has been speculated to be due to the partial activity of 17βHSD3 in the testes and extratesticular testosterone conversion by other members of the family, such as 17βHSD5 Certain XY individuals with deficiency of the enzyme 17βHSD3 and raised as females ask for male reassignment after puberty The 17βHSD3 deficiency causes an autosomal recessive form of 46,XY DSD that can be clinically indistinguishable from other forms. The correct diagnosis can be achieved by systematic endocrine evaluation and, most importantly, by the calculation of the testosterone/Δ4 ratio. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Prenatal exposure of the brain to androgens has increasingly been put forward as a critical factor in gender identity development, but in this case the social factor was more important for the gender assignment.This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.Written informed consent has been obtained from the patient for publication of the submitted article and accompanying images.Prof. I Hughes supervised the reported case from the beginning, including the genetic study and clinical tests. The Genetic Department of Hospital São João handled the connection with the Molecular Laboratory of University College London Hospital. The Pathology Department of Hospital São João performed the histological exam of the testes. And finally, the Molecular Laboratory of University College London Hospital performed the genetic study.