Moorthy Vivek, Sanku Koushik, Singh Harjinder P, Khillan Ratesh, Patel Pathik P
Internal Medicine, Kasturba Medical College, Manipal, IND.
Hematology and Oncology, Brooklyn Cancer Care, Brooklyn, USA.
Cureus. 2021 Feb 25;13(2):e13553. doi: 10.7759/cureus.13553.
Lynch syndrome is an autosomal dominant disorder caused by germline mutation affecting mismatch-repair genes. Genetic testing is performed selectively. Diagnosed individuals are to undergo surveillance to detect and manage Lynch syndrome-related cancers early in the course. Muir-Torre syndrome is a phenotypic variant of Lynch syndrome characterized by sebaceous neoplasms, keratoacanthoma, or both in addition to other Lynch syndrome-related cancers. Other neoplasms of the skin, such as squamous cell carcinoma, are not recognized as part of the Lynch syndrome tumor-spectrum. We report a case of cutaneous squamous cell carcinoma occurring in a patient with Lynch syndrome and explore some of the characteristic features and significance of this association.
林奇综合征是一种常染色体显性疾病，由影响错配修复基因的种系突变引起。选择性地进行基因检测。确诊个体需接受监测，以便在病程早期发现并处理与林奇综合征相关的癌症。穆尔-托雷综合征是林奇综合征的一种表型变异，其特征除了其他与林奇综合征相关的癌症外，还伴有皮脂腺肿瘤、角化棘皮瘤或两者皆有。皮肤的其他肿瘤，如鳞状细胞癌，不被认为是林奇综合征肿瘤谱的一部分。我们报告了一例发生在林奇综合征患者身上的皮肤鳞状细胞癌病例，并探讨了这种关联的一些特征和意义。
