林奇综合征患者伴微卫星不稳定的肺鳞状细胞癌：一例报告

Squamous Cell Carcinoma of the Lung With Microsatellite Instability in a Patient With Lynch Syndrome: A Case Report.

作者信息

Haddad Emna, Bottet Benjamin, Thiebaut Pierre-Alain, Morin Samira, Dreyfus Hélène, Vannier Élise, Vincent Colette, Marguet Florent, Lamy Aude, Sobol Hagay, Baste Jean-Marc, Guisier Florian, Sabourin Jean-Christophe, Piton Nicolas

机构信息

University of Rouen Normandy (UNIROUEN), Institut National de la Santé et de la Recherche Médicale (INSERM) U1245, Rouen, France.

Department of Pathology, Hospital Center University De Rouen (CHU Rouen), Rouen, France.

出版信息

JTO Clin Res Rep. 2023 Oct 19;5(1):100595. doi: 10.1016/j.jtocrr.2023.100595. eCollection 2024 Jan.

DOI:10.1016/j.jtocrr.2023.100595

PMID:38229768

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10788277/

Abstract

Lynch syndrome is the most common autosomal dominant inherited cancer predisposing syndrome, due to mutations in DNA mismatch repair genes. The key feature of cancers in Lynch syndrome is microsatellite instability and a high risk of developing mainly colorectal and uterine cancers. However, cancers with microsatellite instability outside this spectrum, for example, lung cancer, are extremely rare. Here, we report a case of squamous cell carcinoma of the lung with microsatellite instability in a patient with Lynch syndrome.

摘要

林奇综合征是最常见的常染色体显性遗传癌症易感综合征，由DNA错配修复基因的突变引起。林奇综合征患者癌症的关键特征是微卫星不稳定性以及主要发生结直肠癌和子宫癌的高风险。然而，在这个范围之外具有微卫星不稳定性的癌症，例如肺癌，极为罕见。在此，我们报告一例林奇综合征患者发生的具有微卫星不稳定性的肺鳞状细胞癌病例。