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Atypical fibroxanthoma arising in a young patient with Li-Fraumeni syndrome

Authors

  • Sun Mi Lee,

    1. Department of Pathology, University of Texas Health Science Center, San Antonio, TX, USA
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  • Wei Zhang,

    1. Department of Pathology, University of Texas Health Science Center, San Antonio, TX, USA
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  • Martin P. Fernandez

    Corresponding author
    1. Department of Pathology, Scott and White Memorial Hospital and Texas A&M University Health Science Center, Temple, TX, USA
    2. Department of Dermatology, Scott and White Memorial Hospital and Texas A&M University Health Science Center, Temple, TX, USA
    • Martin P. Fernandez, MD,

      Anatomic Pathology, Scott and White Memorial Hospital, MS01-266, 2401 South 31st Street, Temple, TX 76508, USA

      Tel: +1 254 724 2723

      Fax: +1 254 724 4391

      e-mail: mfernandez@sw.org

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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.

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