体质错配修复缺陷,最具侵略性的癌症易感性综合征:临床表现,监测和管理。

IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY
Journal of Korean Neurosurgical Society Pub Date : 2025-05-01 Epub Date: 2025-04-29 DOI:10.3340/jkns.2025.0024
Eungu Kang, Jin Kyung Suh, Sang-Dae Kim
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引用次数: 0

摘要

体质错配修复缺陷(CMMRD)是一种罕见的高侵袭性癌症易感性综合征,由错配修复基因的双等位基因突变引起。这种疾病的特点是多器官系统的早发性恶性肿瘤,包括中枢神经系统肿瘤、血液系统肿瘤和胃肠道恶性肿瘤。cmmrd相关肿瘤表现出高突变和微卫星不稳定性,导致高肿瘤突变负担,并使这些恶性肿瘤对免疫检查点抑制剂(ICIs)有反应。靶向程序性细胞死亡蛋白-1和程序性细胞死亡配体1的ICIs已显示出显著的疗效,特别是在超突变肿瘤中,提供持久的反应并改善生存结果。遗传和分子诊断的进步提高了早期识别CMMRD的能力,从而允许实施全面的监测计划和改进的管理策略。多学科和个性化的方法是必不可少的管理CMMRD患者。本综述强调了早期诊断、监测和新兴治疗方法的重要性,以改善受这种破坏性综合征影响的个人和家庭的预后和生活质量。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Constitutional Mismatch Repair Deficiency, the Most Aggressive Cancer Predisposition Syndrome : Clinical Presentation, Surveillance, and Management.

Constitutional mismatch repair deficiency (CMMRD) is a rare and highly aggressive cancer predisposition syndrome caused by biallelic germline mutations in mismatch repair genes. This condition is characterized by early-onset malignancies across multiple organ systems, including central nervous system tumors, hematological cancers, and gastrointestinal malignancies. CMMRD-associated tumors exhibit hypermutation and microsatellite instability, resulting in a high tumor mutation burden and rendering these malignancies responsive to immune checkpoint inhibitors (ICIs). ICIs targeting programmed cell death protein-1 and programmed cell death ligand 1 have demonstrated remarkable efficacy, particularly in hypermutated tumors, providing durable responses and improving survival outcomes. Advances in genetic and molecular diagnostics have enhanced the ability to identify CMMRD early, allowing for the implementation of comprehensive surveillance programs and improved management strategies. A multidisciplinary and individualized approach is essential for managing CMMRD patients. This review underscores the importance of early diagnosis, surveillance, and emerging therapeutic approaches to improve outcomes and quality of life for individuals and families affected by this devastating syndrome.

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来源期刊
CiteScore
2.90
自引率
6.20%
发文量
109
审稿时长
3-8 weeks
期刊介绍: The Journal of Korean Neurosurgical Society (J Korean Neurosurg Soc) is the official journal of the Korean Neurosurgical Society, and published bimonthly (1st day of January, March, May, July, September, and November). It launched in October 31, 1972 with Volume 1 and Number 1. J Korean Neurosurg Soc aims to allow neurosurgeons from around the world to enrich their knowledge of patient management, education, and clinical or experimental research, and hence their professionalism. This journal publishes Laboratory Investigations, Clinical Articles, Review Articles, Case Reports, Technical Notes, and Letters to the Editor. Our field of interest involves clinical neurosurgery (cerebrovascular disease, neuro-oncology, skull base neurosurgery, spine, pediatric neurosurgery, functional neurosurgery, epilepsy, neuro-trauma, and peripheral nerve disease) and laboratory work in neuroscience.
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