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