Steinke-Lange Verena, Holinski-Feder Elke
MGZ - Medizinisch Genetisches Zentrum, Bayerstraße 3-5, 80335, München, Deutschland.
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München Campus Innenstadt, München, Deutschland.
Pathologie (Heidelb). 2024 Jul;45(4):290-299. doi: 10.1007/s00292-024-01339-0. Epub 2024 Jun 12.
Patients with Lynch syndrome, one of the most common hereditary tumor predisposition syndromes, harbor an increased risk for a broad spectrum of especially gastrointestinal and gynecological tumors. Causative for the syndrome are variants in DNA mismatch repair genes, which are passed on to the offspring at a 50% chance (autosomal dominant inheritance). The tumor tissue of these patients usually shows microsatellite instability, which is of increasing relevance regarding prognosis and therapeutic decisions. The detection of a causative genetic variant in a patient enables predictive testing of family members to provide relief to noncarriers and provide carriers with intensified risk-adapted surveillance. In addition, chemoprevention with aspirin (acetylsalicylic acid) has been proven useful for chemoprevention in studies. Therefore, the diagnosis of Lynch syndrome is important for patients and their relatives.
林奇综合征是最常见的遗传性肿瘤易感性综合征之一,患有该综合征的患者患多种肿瘤的风险增加,尤其是胃肠道和妇科肿瘤。该综合征的病因是DNA错配修复基因的变异,这些变异以50%的几率遗传给后代(常染色体显性遗传)。这些患者的肿瘤组织通常表现出微卫星不稳定性,这在预后和治疗决策方面的相关性日益增加。在患者中检测到致病基因变异能够对家庭成员进行预测性检测,从而使非携带者放心,并为携带者提供强化的风险适应性监测。此外,在研究中已证明阿司匹林(乙酰水杨酸)化学预防是有用的。因此,林奇综合征的诊断对患者及其亲属很重要。