Sarcomatous transformation (Leiomyosarcoma) in polyostotic fibrous dysplagia
We have previously reported detailed history of this case and follow-up in our journal.[] In brief, this 27-year-old male presented with pain in neck and extensive osteolytic lesion in the spine. After extensive evaluation for malignancy on biopsy, he was diagnosed as a case of polyostotic fibrous dysplasia.[] On follow-up, he developed severe pain and weight loss; and repeat investigation showed progression of lesion with increased CA19.9 levels, hepatic space occupying lesion, and increased standardized uptake value (SUV) on Fluoro-deoxy-glucose positron emmission tomography (18-FDG-PET) in liver and anterior superior iliac spine. However, open biopsy from anterior superior iliac spine did not reveal any malignancies and was consistent with diagnosis of polyostotic fibrous dysplasia. He was on treatment with injection zoledronic acid, vitamin D, and narcotic analgesics.[]\nPatient continued to deteriorate and presented with complaints of jaundice and breathlessness for last 2 weeks in August 2012. Breathlessness was present at rest and progressive in nature. Patient was bed-ridden since last 4-5 days. On examination, he was sick looking and his vitals were normal. He had pallor, icterus, pedal edema, bilateral axillary, left supraclavicular and left cervical lymph nodes, and a single, tender, bony swelling of 3.0 × 2.0 cm in size on right chest wall near right nipple. Systemic examination revealed tender hepatomegaly and bilateral basal crepts with occasional rhonchi on right side. On central nervous system examination, he had generalized muscular wasting, mainly of small ones of hands and feet with power of 3/5 in left lower limb and 4/5 in rest all other limbs. Tone was decreased in all muscles. Deep tendon reflexes were absent; left ankle and depressed in right suggestive of lower motor neuron type of weakness. Cardiovascular system examination was within normal limits. His laboratory investigation showed - Hb-7.5 gm/dl, TLC-12300/cumm, platelets- 81000/cumm, total protein-5.4 mg/dl, albumin-1.7 mg/dl/SGOT/SGPT- 86/39 IU/ml, serum alkaline phosphatase-332, GGT- 389, LDH-43, calcium/phosphate-8.0/2.9. On USG abdomen, liver was 17 cm in longitudinal scan with heteroechoeic texture. There was evidence of multiple rounded, nodular, iso- to hypo-echoeic lesions studded in both lobes of liver; largest measuring 2.5 × 3.5 cm in segment II, leading a variegated appearance of the parenchyma with evidence of necrosis within the lesion and bilobar dilatation of intra-hepatic biliary radicles. These lesions showed mild to moderate color flow on color Doppler application. Portal vein was 8.7 mm at confluence, and 9 mm at porta. Patient was treated with broad-spectrum antibiotics in addition to analgesics. Repeat fine needle aspiration cytology of right chest wall lesion was performed, which was suggestive of spindle cell tumor. Patient's condition deteriorated and was kept on inotropic support along with ventilatory support. However, he did not respond and succumb to his illness.\nAutopsy was performed. Salient findings on internal gross examination were heavy boggy congested lungs with multiple sub-pleural white patches, enlarged liver with congested spleen. Multiple grey-white nodules were present in liver, spleen, greater omentum of stomach, small and large intestine, left lobe of thyroid, expanded right rib, right and left sacro-iliac joints and L4-L5 []. On histopathological examination, effacement of normal bony architecture by tumor cells arranged in fascicles, intersecting bundles and storiform pattern was observed. These tumor cells were elongated spindle-shaped cells with abundant eosinophilic cytoplasm, cigar-shaped nucleus []. Occasional multinucleated giant cells were noted. Mitosis was present (>10/10 hpf), and pleomorphic areas were noted. On immunohistochemistry, tumor was positive for smooth muscle antigen (SMA) and vimentin and negative for CD-117, S-100, HMB-45, CK, epithelial membrane antigen (EMA), myogenin, desmin, Myo D1, BCl2, CD68, Mic 2, and Ki-67. With these finding, a diagnosis of leiomyosarcoma of bone with metastasis to pancreas, liver, spleen, left kidney, thyroid, small and large intestine, lungs, and heart was made.