A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.
A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.
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DOI：
10.14309/crj.2017.34
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发表时间：
2017
影响因子：
0.7
通讯作者：
Samadder NJ
中科院分区：
文献类型：
--
作者：
Rengifo-Cam W;Jasperson K;Garrido-Laguna I;Colman H;Scaife C;Samowitz W;Samadder NJ
体质错配修复缺陷(CMMRD)是一种破坏性的癌症易感综合征，其临床表现、基因筛查和癌症预防策略有限。我们报告一例CMMRD表现为异时性结直肠癌和脑癌。肿瘤学家和胃肠病学家应该意识到CMMRD综合征是极早发病的结直肠癌的一种罕见原因。
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.