• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

一名患有三种原发性恶性肿瘤的30岁男性：一例遗传性错配修复缺陷病例

A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.

作者信息

Rengifo-Cam William, Jasperson Kory, Garrido-Laguna Ignacio, Colman Howard, Scaife Courtney, Samowitz Wade, Samadder N Jewel

机构信息

Division of Gastroenterology and Hepatology, University of Texas Southwestern, Dallas, TX; Cancer Genetics Department, Jupiter Medical Center, Jupiter, FL.

Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.

出版信息

ACG Case Rep J. 2017 Mar 1;4:e34. doi: 10.14309/crj.2017.34. eCollection 2017.

DOI:10.14309/crj.2017.34
PMID:28286799
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5340720/
Abstract

Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists and gastroenterologists should be aware of the CMMRD syndrome as a rare cause of very early-onset colorectal cancer.

摘要

先天性错配修复缺陷（CMMRD）是一种严重的癌症易感综合征，其临床表现、基因筛查和癌症预防策略都很有限。我们报告一例CMMRD患者，先后发生了结直肠癌和脑癌。肿瘤学家和胃肠病学家应意识到CMMRD综合征是极早期结直肠癌的罕见病因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f816/5340720/91a9d95ca56f/CG-CGCR170001F002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f816/5340720/67b7145826c6/CG-CGCR170001F001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f816/5340720/91a9d95ca56f/CG-CGCR170001F002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f816/5340720/67b7145826c6/CG-CGCR170001F001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f816/5340720/91a9d95ca56f/CG-CGCR170001F002.jpg

相似文献

1
A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.一名患有三种原发性恶性肿瘤的30岁男性：一例遗传性错配修复缺陷病例
ACG Case Rep J. 2017 Mar 1;4:e34. doi: 10.14309/crj.2017.34. eCollection 2017.
2
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.遗传和临床决定因素导致的错配修复缺陷综合征：来自错配修复缺陷综合征联盟的报告。
Eur J Cancer. 2014 Mar;50(5):987-96. doi: 10.1016/j.ejca.2013.12.005. Epub 2014 Jan 15.
3
Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.免疫疗法是先天性错配修复缺陷（CMMRD）综合征癌症治疗和预防的关键。
Cancer Lett. 2017 Sep 10;403:159-164. doi: 10.1016/j.canlet.2017.06.018. Epub 2017 Jun 20.
4
Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency.儿童难治性胶质母细胞瘤伴胚系双等位基因错配修复缺陷患者对纳武利尤单抗的持久应答。
Oncologist. 2018 Dec;23(12):1401-1406. doi: 10.1634/theoncologist.2018-0163. Epub 2018 Aug 13.
5
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).先天性错配修复缺陷综合征的诊断标准：欧洲“关爱CMMRD”（C4CMMRD）联盟的建议
J Med Genet. 2014 Jun;51(6):355-65. doi: 10.1136/jmedgenet-2014-102284. Epub 2014 Apr 15.
6
Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.伴有高级别胶质瘤、多发发育性静脉畸形和皮质发育畸形的错配修复缺陷（CMMRD）：一种多学科/多中心方法和神经影像学线索有助于明确诊断。
Childs Nerv Syst. 2021 Jul;37(7):2375-2379. doi: 10.1007/s00381-020-04986-9. Epub 2020 Nov 27.
7
Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.确定遗传性错配修复缺陷（CMMRD）综合征的一个新特征：乳腺癌。
Fam Cancer. 2019 Jan;18(1):105-108. doi: 10.1007/s10689-018-0088-0.
8
Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome: A Case Report of a Patient With Multiple Metachronous Malignancies.先天性错配修复缺陷（CMMRD）综合征：一例患有多个异时性恶性肿瘤患者的病例报告
Cureus. 2023 Jul 14;15(7):e41870. doi: 10.7759/cureus.41870. eCollection 2023 Jul.
9
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.同源重组修复缺陷作为 1 型神经纤维瘤病的鉴别诊断：无恶性肿瘤患儿检测的共识指南。
J Med Genet. 2019 Feb;56(2):53-62. doi: 10.1136/jmedgenet-2018-105664. Epub 2018 Nov 10.
10
Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.先天性错配修复缺陷综合征与1型神经纤维瘤病之间的关联。
Clin Genet. 2017 Apr;91(4):507-519. doi: 10.1111/cge.12904. Epub 2017 Jan 10.

引用本文的文献

1
Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome: A Case Report of a Patient With Multiple Metachronous Malignancies.先天性错配修复缺陷（CMMRD）综合征：一例患有多个异时性恶性肿瘤患者的病例报告
Cureus. 2023 Jul 14;15(7):e41870. doi: 10.7759/cureus.41870. eCollection 2023 Jul.
2
Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.对子宫内膜癌患者错配修复途径相关基因进行靶向测序。
PLoS One. 2020 Jul 7;15(7):e0235613. doi: 10.1371/journal.pone.0235613. eCollection 2020.

本文引用的文献

1
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.对大量疑似林奇综合征或遗传性错配修复缺陷综合征先证者队列中的PMS2进行全面突变分析。
Hum Mutat. 2016 Nov;37(11):1162-1179. doi: 10.1002/humu.23052. Epub 2016 Aug 21.
2
The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.体质性错配修复缺陷综合征的胃肠道表现：从单个腺瘤到息肉样表型及早期癌症。
Clin Genet. 2015 Nov;88(5):474-8. doi: 10.1111/cge.12518. Epub 2014 Nov 10.
3
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
先天性错配修复缺陷综合征的诊断标准：欧洲“关爱CMMRD”（C4CMMRD）联盟的建议
J Med Genet. 2014 Jun;51(6):355-65. doi: 10.1136/jmedgenet-2014-102284. Epub 2014 Apr 15.
4
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).欧洲“关爱宪法性错配修复缺陷患者”联盟（C4CMMR-D）提出的宪法性错配修复缺陷个体监测指南。
J Med Genet. 2014 May;51(5):283-93. doi: 10.1136/jmedgenet-2013-102238. Epub 2014 Feb 20.
5
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.儿童肠型肿瘤和息肉病与双等位基因 PMS2 突变相关：病例系列、综述和随访指南。
Eur J Cancer. 2011 May;47(7):965-82. doi: 10.1016/j.ejca.2011.01.013. Epub 2011 Mar 4.
6
Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.表现为结肠腺瘤性息肉病的错配修复缺陷综合征：皮肤提供的线索。
Clin Genet. 2011 Oct;80(4):394-7. doi: 10.1111/j.1399-0004.2010.01543.x. Epub 2010 Oct 6.
7
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.种系双等位基因突变的胃肠道表型。
Am J Gastroenterol. 2010 Nov;105(11):2449-56. doi: 10.1038/ajg.2010.215. Epub 2010 Jun 8.
8
Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome.林奇综合征患者结直肠癌和子宫内膜癌风险的计算。
Gastroenterology. 2009 Nov;137(5):1621-7. doi: 10.1053/j.gastro.2009.07.039. Epub 2009 Jul 18.
9
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?先天性错配修复缺陷综合征：到目前为止，我们看到的只是冰山一角吗？
Hum Genet. 2008 Sep;124(2):105-22. doi: 10.1007/s00439-008-0542-4. Epub 2008 Aug 18.