title: Atypical fibroxanthoma arising in a young patient with Li-Fraumeni syndrome.
abstract: Patients with Li-Fraumeni syndrome (LFS) have a germ-line mutation of p53 (TP53) and are predisposed to develop a variety of malignancies at an early age. In this report, we describe an 18-year-old woman with LFS who developed an atypical fibroxanthoma (AFX) on her left arm. This tumor was based in the dermis, sparsely cellular and had ill-defined borders. It was composed predominantly of medium-sized spindled-shaped cells, but many large cells with pleomorphic nuclei were also present. Immunohistochemical stains showed that the tumor cells lacked expression of keratin, S-100 protein, desmin and CD34. Array-based comparative genomic hybridization (aCGH) revealed marked genomic instability with multiple whole chromosome losses, including chromosomes 8, 10, 13 and 22, as well as a partial loss of 17p. This represents one of a few reports of a cutaneous tumor in a patient with LFS and a rare example of an AFX occurring at a young age.
authors.affiliation: Department of Pathology, University of Texas Health Science Center, San Antonio, TX, USA.
authors.forename: Sun Mi
authors.initials: SM
authors.lastname: Lee
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Martin P
authors.initials: MP
authors.lastname: Fernandez
mesh_terms: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D005260:Female; D005354:Fibrosarcoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D012878:Skin Neoplasms; D016159:Tumor Suppressor Protein p53 / Q000235:genetics / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53
keywords: Li-Fraumeni syndrome; TP53; aCGH; atypical fibroxanthoma; p53