Klein Jonah D, Kupferman Michael E
Department of Surgery, Main Line Health, Bryn Mawr, Pennsylvania.
Department of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Head Neck. 2017 Feb;39(2):E20-E22. doi: 10.1002/hed.24594. Epub 2016 Oct 11.
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.
李-弗劳梅尼综合征（LFS）是一种与TP53基因种系突变相关的家族性癌症易感性疾病。LFS患者有发生恶性肿瘤的风险，需要进行全面筛查。我们描述了一例以黏膜黑色素瘤为表现的LFS索引病例。
一名21岁女性出现左上颌黏膜病变和左颈部肿块。活检显示为转移性黏膜黑色素瘤，这是LFS家族中此前未报告过的一种病理情况。基因检测显示为LFS，伴有种系TP53突变，家系分析确定有9名患有血液系统恶性肿瘤的一级和二级亲属。
患者接受了上颌骨切除术和左颈部清扫术，随后进行辅助放疗。在30个月的随访中，没有局部、区域或远处复发的证据，她也没有发生第二原发性肿瘤。
这是首次报道的与黏膜黑色素瘤相关的LFS病例。讨论了治疗方面的考虑因素，特别是LFS中辅助治疗的风险。©2016威利期刊公司。《头颈》39: E20-E22，2017。
