title: Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case.
abstract: We herein report the case of a patient with Li-Fraumeni syndrome (LFS) who developed lung pleomorphic carcinoma. A 28-year-old female patient with a family history of early-onset malignancies was diagnosed with lung carcinoma and treated by surgical resection. Histological examination revealed a heterogeneous tumor with epithelial and mesenchymal components. The final pathological diagnosis was pulmonary pleomorphic carcinoma. In this patient, a constitutional mutation at codon 213 in exon 6 of the p53 gene was identified in the peripheral lymphocytes and the resected tumor, and LFS was suspected. This mutation causes a nonsense mutation (Arg-to-Stop codon) that has been shown to attenuate p53 function. This is the first report of pulmonary pleomorphic carcinoma developing in an LFS patient, and may suggest a relationship between germline p53 mutation and carcinogenesis in pulmonary pleomorphic carcinoma.
authors.affiliation: Department of Thoracic Surgery, Sapporo Minami-sanjo Hospital, S3, W6, Chuo-ku, Sapporo, 060-0063, Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Kato
authors.forename: Keidai
authors.initials: K
authors.lastname: Ishikawa
authors.forename: Masaaki
authors.initials: M
authors.lastname: Satoh
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kondo
authors.forename: Mitsuhito
authors.initials: M
authors.lastname: Kaji
mesh_terms: D000328:Adult; D002277:Carcinoma / Q000209:etiology / Q000473:pathology* / Q000601:surgery; D005260:Female; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000150:complications*; D008175:Lung Neoplasms / Q000209:etiology / Q000473:pathology* / Q000601:surgery