Constitutional mismatch repair deficiency: a case on a commonly misinterpreted mutation in colon cancer.

IF 0.8 Q4 GASTROENTEROLOGY & HEPATOLOGY

Clinical Journal of Gastroenterology Pub Date : 2024-10-01 Epub Date: 2024-08-02 DOI:10.1007/s12328-024-02015-9

King C, Edwards H, Thompson E, Abdelmasseh M, Cuaranta A, Pacioles A, Sanabria J

引用次数: 0

Abstract

It is estimated that 153,020 cases of CRC per year, with an increase in diagnoses in younger patients. We present a case of a female with an early presentation of Lynch Syndrome and CRC, who, on her third malignant presentation, was re-diagnosed as a constitutional mismatch repair deficiency.

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体制性错配修复缺陷：结肠癌中常见的误读突变案例。

据估计，每年有 153,020 例 CRC 病例，年轻患者的诊断率有所上升。我们介绍了一例早期表现为林奇综合征和 CRC 的女性患者，她在第三次出现恶性病变时被再次诊断为体质性错配修复缺陷。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Journal of Gastroenterology GASTROENTEROLOGY & HEPATOLOGY-

CiteScore

2.00

自引率

0.00%

发文量

182

期刊介绍： The journal publishes Case Reports and Clinical Reviews on all aspects of the digestive tract, liver, biliary tract, and pancreas. Critical Case Reports that show originality or have educational implications for diagnosis and treatment are especially encouraged for submission. Personal reviews of clinical gastroenterology are also welcomed. The journal aims for quick publication of such critical Case Reports and Clinical Reviews.