Malignant mesenchymoma of the lower leg

Abstract

A 24 year old man had a two year history of a painless mass on his right popliteal region. Magnetic resonance imaging demonstrated a 6 × 8 cm tumour mass in the lateral gastrocunemius. Histological examination of the tumour resected by radical surgery revealed that it consisted of myoblastic sarcoma and chondrosarcoma. Immunohistochemical studies were positive for Ki-67 and p53 throughout the area and for S-100 protein in the chondrosarcomatous area; in addition, they showed partial positivity for muscle common actin (HHF-35), smooth muscle actin, and myoglobin in the spindle cells. The percentages of Ki-67, p53, and p21/WAF1 positive cells in the spindle cell component were 34%, 65.7%, and < 0.1%, respectively. In addition, staining was negative for pancytokeratin, desmin, and glial fibrillary acidic protein. The SYT-SSX, TLS-CHOP, and EWS-FLI1 fusion genes were not detected using the reverse transcription polymerase chain reaction. Given the results, the definitive histological diagnosis is malignant mesenchymoma. This is the first report of malignant mesenchymoma of the lower leg with immunohistochemical and molecular studies.