title: Familial aggregation of soft tissue sarcomas: a report of three cases from a Li-Fraumeni-like family.
abstract: Three rare cases of familial aggregation of soft tissue sarcomas (malignant fibrous histiocytoma in a mother and liposarcomas in her two children) are described. The mother developed a late onset of malignant fibrous histiocytoma in her right thigh. Her son and daughter both developed retroperitoneal liposarcomas at the ages of 38 and 33 years, respectively. The mother also developed gastric carcinoma as a second malignancy after a 2-year interval. These clinical features closely resemble those of Li-Fraumeni syndrome, but do not fulfill the exact diagnostic criteria. Genetically, the germline mutation of the p53 gene between exons 4 and 9 was not detected by sequencing DNA obtained from the peripheral blood of the mother. Immunohistochemically, p53 protein was found only in the liposarcoma of the daughter. These results strongly suggest that this familial aggregation of soft tissue sarcomas is very rare, and that it is a unique feature of a familial cancer syndrome that to our knowledge has not been defined or described previously.
authors.affiliation: Department of Pathology, Mutsu General Hospital, Aomori, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Narita
authors.forename: Y
authors.initials: Y
authors.lastname: Dobashi
authors.forename: T
authors.initials: T
authors.lastname: Nakamura
authors.forename: S
authors.initials: S
authors.lastname: Yokoyama
authors.forename: K
authors.initials: K
authors.lastname: Matsuda
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D016158:Genes, p53; D006801:Humans; D007150:Immunohistochemistry; D016864:Li-Fraumeni Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D008297:Male; D009154:Mutation; D012509:Sarcoma / Q000737:chemistry / Q000235:genetics* / Q000473:pathology*; D017422:Sequence Analysis, DNA; D013194:Staining and Labeling; D016159:Tumor Suppressor Protein p53 / Q000032:analysis / Q000235:genetics
chemical_list: D016159:Tumor Suppressor Protein p53