Epithelioid Rhabdomyosarcoma; a case report with immunohistochemical and molecular study

Recently, we encountered a biopsy of epithelioid rabdomyosarcoma with lymph node metastasis. A computed tomography (CT) scan showed number of swollen lymph nodes in the left neck and a huge abdominal mass occupying the right kidney. In the lymph node biopsy, tumor cells showed diffuse sheet-like growth reminiscent of carcinoma and melanoma cells with extensive distribution of coagulation necrosis. Tumor cells had abundant amphophilic cytoplasm and clear large nuclei. Most tumor cells showed severe cytologic atypia manifested in prominent nucleoli and pleomorphic nuclei. Tumor cells were focally positive for desmin. Most tumor cells showed expressons for vimentin, BAF47 (INI-1), and myogenin. On reverse transcriptase polymerase chain reaction (RT-PCR) analysis, tumor cells lacked Myo D1 and PAX3/7-FKHR transcripts and showed myogenin transcripts. On cytogenetic (karyotypic) analysis, tumor cells showed highly complex karyotypes. The patient received various regimens of chemotherapy, but 6 months after the biopsy she died with progression of the tumor. Since consent was not obtained, an autopsy was not performed. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13000-015-0349-2) contains supplementary material, which is available to authorized users.