title: Diagnosing a rare case of desmoplastic small round cell tumour on liver biopsy.
abstract: A 50-year-old male of Indian descent presented with jaundice and right hypochondrium pain. Following a computed tomography (CT) scan of the abdomen, a segment 7 liver lesion was visualized, accompanied by extensive peritoneal tumour deposits. An ultrasound guided liver biopsy was performed and histology showed loose nests and sheets of tumour cells with a small blue round cell morphology. The tumour cells showed patchy strong immunopositivity for cytokeratins (AE1/3, CK7, CK19) and synaptophysin, while showing diffuse strong perinuclear positivity for desmin. Interphase fluorescence in-situ hybridization (FISH) study using EWSR1 breakapart probe was positive for EWSR1 gene rearrangement. Desmoplastic small round cell tumour is a rare but aggressive intra-abdominal mesenchymal tumour. While the primary sites of involvement are usually the peritoneum and omentum, visceral involvement can occur. We wish to highlight the importance of considering this entity when evaluating a liver biopsy especially in a less than classical clinical context.
authors: Singapore General Hospital, Pathology Department, 20 College Road, Academia, Level 10, Diagnostics Tower, Singapore 169856. fanfoon.cheo@mohh.com.sg.
authors: F F
authors: FF
authors: Cheo
authors: W Q
authors: WQ
authors: Leow
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis; D001706:Biopsy; D002148:Calmodulin-Binding Proteins / Q000235:genetics; D058405:Desmoplastic Small Round Cell Tumor / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008113:Liver Neoplasms / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D009362:Neoplasm Metastasis / Q000473:pathology; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D014408:Biomarkers, Tumor; D002148:Calmodulin-Binding Proteins; C500986:EWSR1 protein, human; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins