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与不匹配修复缺陷相关的结肠直肠癌

Mingzhu Sun¹, Kevin Monahan^2,3, Jayne Moquet¹

¹Cytogenetics Group, Radiation Effects Department, Radiation, Chemical, Climate and Environmental Hazards Directorate (RCCE), UK Health Security Agency (UKHSA), Didcot, United Kingdom.

Frontiers in medicine

|September 24, 2025

概括

本综述更新了结直肠癌 (CRC) 中的DNA不匹配修复 (MMR) 基因变异. 尽管有指导方针,但MMR缺乏CRC的诊断不足,但新的研究表明,改善患者的治疗结果是有希望的.

科学领域:

在瘤学瘤学.
遗传学遗传学是一个
分子生物学分子生物学

背景情况:

结肠直肠癌 (CRCs) 与DNA不匹配修复 (MMR) 基因突变存在独特的挑战.
生殖线和体质MMR变化导致不同的CRC亚型,包括林奇综合征和零星的MMR缺乏CRC.
尽管有普遍的测试建议,但CRC中的MMR缺乏症 (dMMR) 仍未得到充分诊断和治疗.

研究的目的:

为预防,诊断,治疗和管理与MMR基因变异相关的CRC提供最新进展的全面审查.
要突出临床意义和正在进行的研究围绕着这种特定的结肠直肠癌的子集.

主要方法:

最近的研究和正在进行的研究的文献评论.
关于遗传性 (林奇综合征,宪法性MMR缺乏症综合征,家族性CRC X) 和带有MMR缺乏症的零星CRC的信息的综合.
对dMMRCRCs分子和临床病理学特征的分析.

主要成果:

更新的研究表明,对dMMRCRC患者改善临床结果的有希望的结果.
对于理解和管理这些癌症而言,dMMRCRC的独特分子和临床病理特征至关重要.
尽管制定了指导方针,但dMMRCRCs的临床诊断和治疗仍然存在差距.

结论:

在CRC中早期和准确诊断MMR缺乏症对于最佳的患者管理至关重要.
对dMMRCRCs独特特征的持续研究对于开发向疗法和改善患者治疗结果至关重要.
解决dMMRCRC的诊断不足和治疗不足问题是临床实践中的关键优先事项.

关键词:

结肠直肠癌是什么意思免疫检查点抑制剂免疫检查点抑制剂林奇和类似林奇综合征微卫星的不稳定性不匹配维修缺陷缺陷辐射的影响辐射效应

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