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.
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.
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。
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