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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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b8f/10788277/fadcbfdc5c64/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b8f/10788277/168ecc17849c/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b8f/10788277/f578d02e214f/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b8f/10788277/fadcbfdc5c64/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b8f/10788277/168ecc17849c/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b8f/10788277/f578d02e214f/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b8f/10788277/fadcbfdc5c64/gr3.jpg

相似文献

1
Squamous Cell Carcinoma of the Lung With Microsatellite Instability in a Patient With Lynch Syndrome: A Case Report.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
JTO Clin Res Rep. 2023 Oct 19;5(1):100595. doi: 10.1016/j.jtocrr.2023.100595. eCollection 2024 Jan.
2
Tumor site discordance in mismatch repair deficiency in synchronous endometrial and ovarian cancers.同源性错配修复缺陷型子宫内膜癌和卵巢癌中肿瘤部位不一致性。
Int J Gynecol Cancer. 2020 Dec;30(12):1951-1958. doi: 10.1136/ijgc-2020-001927. Epub 2020 Oct 20.
3
Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population.在一家日本医院人群中，上尿路尿路上皮癌患者中林奇综合征的患病率。
Jpn J Clin Oncol. 2020 Jan 24;50(1):80-88. doi: 10.1093/jjco/hyz140.
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Long-term benefit of immunotherapy in a patient with squamous lung cancer exhibiting mismatch repair deficient/high microsatellite instability/high tumor mutational burden: A case report and literature review.免疫治疗在表现为错配修复缺陷/高微卫星不稳定/高肿瘤突变负荷的鳞状肺癌患者中的长期获益：病例报告及文献复习。
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本文引用的文献

1
Long-term benefit of immunotherapy in a patient with squamous lung cancer exhibiting mismatch repair deficient/high microsatellite instability/high tumor mutational burden: A case report and literature review.免疫治疗在表现为错配修复缺陷/高微卫星不稳定/高肿瘤突变负荷的鳞状肺癌患者中的长期获益：病例报告及文献复习。
Front Immunol. 2023 Jan 10;13:1088683. doi: 10.3389/fimmu.2022.1088683. eCollection 2022.
2
Case Report and Literature Review: Diagnosis, Tailored Genetic Counseling and Cancer Prevention for a Locally Advanced dMMR/MSI-H/TMB-H Lung Cancer Patient With Concurrent Lynch Syndrome Mediated by a Rare Splicing Variant (c.1144+1G>A).病例报告与文献综述：针对一名伴有罕见剪接变异（c.1144+1G>A）介导的林奇综合征的局部晚期错配修复缺陷/微卫星高度不稳定/肿瘤突变负荷高的肺癌患者的诊断、个性化遗传咨询及癌症预防
Front Genet. 2022 Jan 18;12:799807. doi: 10.3389/fgene.2021.799807. eCollection 2021.
3
European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.欧洲 EHTG 和 ESCP 关于林奇综合征的指南：基于基因和性别对马略卡指南的第三版更新。
Br J Surg. 2021 May 27;108(5):484-498. doi: 10.1002/bjs.11902.
4
Lung Adenocarcinoma with Lynch Syndrome and the Response to Nivolumab.伴有林奇综合征的肺腺癌及其对纳武单抗的反应。
Intern Med. 2019;58(10):1479-1484. doi: 10.2169/internalmedicine.1673-18. Epub 2019 May 15.
5
First case report of Muir-Torre syndrome associated with non-small cell lung cancer.首例 Muir-Torre 综合征合并非小细胞肺癌病例报告。
Fam Cancer. 2009;8(4):359-62. doi: 10.1007/s10689-009-9247-7. Epub 2009 May 16.