Primary Rhabdomyosarcoma Mimicking a Small Cell Sarcoma of Bone: A Nude Mice Xenograft, Cytogenetic, and Molecular Approach

Abstract

Small cell sarcomas of bone are difficult to classify and diagnose. The present case deals with such a tumor in which the original biopsy and the resected specimen, studied by histology before chemotherapy, provided no final information about its real nature. Thus several techniques were applied to discern its histogenesis and biology. Myogenin proved positive in isolated cells of the primary neoplasm but was extensively expressed in nude mice xenografts. Electron microscopy confirmed the existence of myofilaments. The cytogenetic analysis revealed a large number of chromo somal abnormalities, but not those found in the Ewing's/PNET (peripheral neuroectodermal tumor) family of tumors. This was confirmed by polymerase chain reaction (RT-PCR) wherein no EWS/Fli 1 or PAX3/FKHR gene rearrangements were detected. Based upon these studies, a rhabdomyosarcoma of bone was diagnosed. Clinically the neoplasm showed a highly aggressive behavior, causing death of the patient within 2 years after diagnosis.