[林奇综合征]

Pathologie (Heidelberg, Germany) Pub Date : 2024-07-01 Epub Date: 2024-06-12 DOI:10.1007/s00292-024-01339-0
Verena Steinke-Lange, Elke Holinski-Feder
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引用次数: 0

摘要

林奇综合征是最常见的遗传性肿瘤易感综合征之一,患者罹患各种肿瘤,尤其是胃肠道肿瘤和妇科肿瘤的风险增加。导致该综合征的原因是 DNA 错配修复基因的变异,这种变异遗传给后代的几率为 50%(常染色体显性遗传)。这些患者的肿瘤组织通常显示出微卫星不稳定性,这与预后和治疗决策的关系越来越密切。检测出患者的致病基因变异后,就可以对家族成员进行预测性检测,为非携带者提供帮助,并对携带者加强风险监测。此外,使用阿司匹林(乙酰水杨酸)进行化学预防已在研究中被证明是有用的。因此,林奇综合征的诊断对患者及其亲属非常重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Lynch syndrome].

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.

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