错配修复缺陷：结肠癌中一种常见的易误解突变病例。
Constitutional mismatch repair deficiency: a case on a commonly misinterpreted mutation in colon cancer.
机构信息
Marshall University School of Medicine (MUSOM), Huntington, USA.
Department of Surgery at MUSOM, Huntington, USA.
出版信息
Clin J Gastroenterol. 2024 Oct;17(5):866-870. doi: 10.1007/s12328-024-02015-9. Epub 2024 Aug 2.
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.
摘要
据估计，每年有 153020 例 CRC 病例，年轻患者的诊断数量有所增加。我们报告了一例具有 Lynch 综合征和 CRC 早期表现的女性病例，她在第三次恶性表现时被重新诊断为错配修复缺陷。
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