Rhabdomyosarcoma (RMS) is a soft tissue tumor with striated muscle cell differentiation. It mostly occurs in children. While it can affect any part of the body, it commonly involves the urogenital organs, head and neck including the parameninges and orbit, and limbs. We describe an adult case of primary epithelioid RMS of the liver. A 71-year-old man presented with a 5.6 cm liver mass. Tumor histology revealed diffuse proliferation of small epithelioid cells and focal spindle cells. The tumor cells were immunohistochemically positive for myogenin (positive ratio 30%), desmin, Myo D1, and CD56. The tumor weakly expressed MDM2 and did not express CDK4. This suggested that dedifferentiated liposarcoma with a rhabdomyosarcomatous component was unlikely. There was no fusion gene of PAX3-FKHR or PAX7- FKHR to indicate alveolar RMS by RT-PCR. Subsequently, RNA Pan-Cancer Targeted sequencing was performed for 1385 genes revealed a single base substitution (c.742C>T) in TP53 that changes an amino acid (p.Arg248Trp). No fusion gene was found. No other primary RMS lesions were detected aside from the liver lesion. The tumor was diagnosed as a primary epithelioid RMS of the liver. His RMS already metastasized to the lymph nodes of the entire body. The patient declined further therapy and died one year later. This was the first case report of a primary epithelioid RMS of the liver.
Keywords: dedifferentiated liposarcoma; elderly; epithelioid rhabdomyosarcoma; liver.