以黏膜黑色素瘤为表现的李-弗劳梅尼综合征：病例报告及治疗考量
Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations.
作者信息
Klein Jonah D, Kupferman Michael E
机构信息
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.
出版信息
Head Neck. 2017 Feb;39(2):E20-E22. doi: 10.1002/hed.24594. Epub 2016 Oct 11.
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.
背景
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。
方法
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。
结果
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。
结论
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。
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