FAMILIAL AGGREGATION OF SOFT-TISSUE SARCOMAS - A REPORT OF 3 CASES FROM A LI-FRAUMENI-LIKE-FAMILY

Three rare cases of familial aggregation of soft tissue sarcomas (mali gnant fibrous histiocytoma in a mother and liposarcomas in her two chi ldren) are described. The mother developed a late onset of malignant f ibrous histiocytoma in her right thigh. Her son and daughter both deve loped retroperitoneal liposarcomas at the ages of 38 and 33 years, res pectively. The mother also developed gastric carcinoma as a second mal ignancy after a 2-year interval. These clinical features closely resem ble those of Li-Fraumeni syndrome, but do not fulfill the exact diagno stic criteria. Genetically, the germline mutation of the p53 gene betw een exons 4 and 9 was not detected by sequencing DNA obtained from the peripheral blood of the mother. Immunohistochemically, p53 protein wa s found only in the liposarcoma of the daughter. These results strongl y suggest that this familial aggregation of soft tissue sarcomas is ve ry rare, and that it is a unique feature of a familial cancer syndrome that to our knowledge has not been defined or described previously.