Le Stephanie, Ansari Umer, Mumtaz Aisha, Malik Kunal, Patel Parth, Doyle Amanda, Khachemoune Amor
Albert Einstein College of Medicine, Bronx, New York.
Dermatol Online J. 2017 Nov 15;23(11):13030/qt8sg5w98j.
Hereditary Nonpolyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, is an autosomal dominant, tumor predisposing disorder usuallycaused by germline mutations in mismatch repair (MMR) genes. A subset of HNPCC, Muir-Torre Syndrome (MTS) also involves MMR gene defects and is generally accepted as a variant of HNPCC. MTS is typicallycharacterized by at least one visceral malignancy and one cutaneous neoplasm of sebaceous differentiation, with or without keratoacanthomas. In either version of the disorder, nonfunctional MMR systems lead tothe loss of genomic integrity, marked commonly by mismatches in repetitive DNA sequences, resulting in microsatellite instabilities. Deleterious nucleotide alterations ultimately drive the process of tumorigenesis in both HNPCC and MTS. The following article reviews the epidemiology, genetics, clinical presentation, and management of HNPCC and its MTS variant.
遗传性非息肉病性结直肠癌（HNPCC），也称为林奇综合征，是一种常染色体显性遗传的肿瘤易感性疾病，通常由错配修复（MMR）基因的种系突变引起。HNPCC的一个子集，穆尔-托雷综合征（MTS）也涉及MMR基因缺陷，通常被认为是HNPCC的一种变体。MTS的典型特征是至少有一个内脏恶性肿瘤和一个皮脂腺分化的皮肤肿瘤，有或没有角化棘皮瘤。在这两种疾病中，无功能的MMR系统都会导致基因组完整性的丧失，通常表现为重复DNA序列中的错配，从而导致微卫星不稳定性。有害的核苷酸改变最终推动了HNPCC和MTS的肿瘤发生过程。以下文章综述了HNPCC及其MTS变体的流行病学、遗传学、临床表现和管理。
