Atypical lipomatous tumor in a 14-year-old patient: distinction from lipoblastoma using FISH analysis

Abstract.

Liposarcomas are rare in young age. We present the rare case of an atypical lipomatous tumor (synonym: well-differentiated lipoma-like liposarcoma) in a 14-year-old girl with the differential diagnosis of lipoblastoma which was excluded by fluorescence in situ hybridization (FISH) analysis. The tumor presented as a soft tissue mass at the dorsal part of the right thigh measuring up to 18 cm. Microscopically the lesion consisted of atypical adipocytes with hyperchromatic nuclei and additional multivacuolated lipoblasts. Interphase dual-color FISH performed with chromosome 8 centromeric and YAC164H5 (mapping to exons 2–5 of the PLAG1 gene) probes revealed no rearrangement of PLAG1 oncogene or polysomy of chromosome 8. Additional FISH using an MDM2 gene probe and an BAC534N15 probe (containing sequences specific for the CDK4 gene) showed amplification of the CDK4 gene. These findings indicate that this tumor was no lipoblastoma but an atypical lipomatous tumor, which is of clinical relevance. In young individuals the distinction between lipoblastoma and liposarcoma is often impossible by light microscopy alone. This case shows that FISH can serve as a decisive tool in the differential diagnosis of lipoblastoma and lipoma-like liposarcoma apart from its role in distinction between lipoblastoma and myxoid/round cell liposarcoma.