title: Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations.
abstract: Li-Fraumeni syndrome (LFS) is a familial cancer predisposition associated with a germline mutation in TP53. Patients with LFS are at risk of developing malignancies and require comprehensive screening. We describe an index case of LFS presenting with mucosal melanoma.
  
  
  
  A 21-year-old woman presented with a left maxillary mucosal lesion and a left neck mass. Biopsies revealed metastatic mucosal melanoma, which is a pathology previously unreported in LFS families. Genetic testing revealed LFS, with a germline TP53 mutation, and pedigree analysis identified 9 first-degree and second-degree relatives with hematologic malignancies.
  
  
  
  The patient underwent a maxillectomy and left neck dissection, followed by adjuvant radiotherapy. At 30-month follow-up, there was no evidence of local, regional, or distant failure, nor did she develop a second primary tumor.
  
  
  
  This represents the first reported case of LFS associated with mucosal melanoma. Treatment considerations, specifically the risks of adjuvant therapy in LFS, are discussed. © 2016 Wiley Periodicals, Inc. Head Neck 39: E20-E22, 2017.
authors.affiliation: Department of Surgery, Main Line Health, Bryn Mawr, Pennsylvania.
authors.forename: Jonah D
authors.initials: JD
authors.lastname: Klein
authors.affiliation: Department of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, Texas.
authors.forename: Michael E
authors.initials: ME
authors.lastname: Kupferman
mesh_terms: D003131:Combined Modality Therapy; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D008441:Maxillary Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008545:Melanoma / Q000175:diagnosis / Q000235:genetics*; D009061:Mouth Mucosa / Q000473:pathology / Q000601:surgery; D037981:Neck Dissection / Q000379:methods; D018714:Radiotherapy, Adjuvant; D035583:Rare Diseases; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D055815:Young Adult
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53
keywords: Li-Fraumeni; head and neck; mucosal melanoma; oral cavity; radiotherapy