We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations.
- Authors
Klein, Jonah D.; Kupferman, Michael E.; Irish, Jonathan
- Abstract
Background 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. Methods 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. Results 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. Conclusion 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
- Subjects
LI-Fraumeni syndrome; MUCOUS membrane cancer; ADJUVANT treatment of cancer; CANCER radiotherapy; MAXILLECTOMY; GENETIC testing; THERAPEUTICS
- Publication
Head & Neck, 2017, Vol 39, Issue 2, pE20
- ISSN
1043-3074
- Publication type
Article
- DOI
10.1002/hed.24594