目前的实验室测试实践不匹配修复缺陷和微卫星不稳定性测试:对当前的实验室实践的基于调查的审查
Amy L Austin1, Russell R Broaddus2, Rhona J Souers3
1Department of Pathology, Walter Reed National Military Medical Center, Bethesda, MD, US.
American journal of clinical pathology
|July 30, 2024
概括
实验室通常使用免疫组织化学进行不匹配修复 (MMR) 和微卫星不稳定性 (MSI) 测试. 对于用于免疫治疗的MMR/MSI检测的认识很高,但实验室类型的实践有所不同.
科学领域:
- 分子诊断学 分子诊断学
- 在瘤学瘤学.
- 实验室医学 实验室医学
背景情况:
- 不匹配修复 (MMR) 和微卫星不稳定性 (MSI) 测试对于指导癌症治疗至关重要,特别是随着免疫检查点抑制剂的出现.
- 在2022年之前,MMR/MSI测试的实践指南尚未普遍建立,导致实验室方法的潜在变化.
研究的目的:
- 在发布新的共识指南之前,评估临床实验室当前的MMR和MSI测试实践.
- 在各种实验室环境中识别测试方法和临床应用的差异.
主要方法:
- 从2020-B美国病理学家学院 (CAP) MSI/MMR能力测试计划中收集的补充问卷中的数据进行了审查.
- 分析了542个实验室关于测试类型,样本使用和与免疫治疗相关的临床实践的反应.
主要成果:
- 与国际站点和非医院设施相比,国内实验室和学术中心报告的MMR/MSI测试频率更高.
- 免疫组织化学是主要的测试方法,其次是聚合酶连锁反应和下一代测序.
- 大多数实验室 (72.6%) 意识到MMR/MSI测试对接受免疫检查点抑制剂治疗的患者的有用性.
结论:
- 该研究提供了新的CAP/AMP指南实施前的MMR和MSI测试实践的快照.
- 这些发现突显了实验室间的差异,并强调需要标准化指导方针,以确保一致的患者护理.
- 这些基线数据将有价值,用于评估新指南在实施后的影响.
相关概念视频
Mismatch Repair
4.8K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.8K
Base-pairing and DNA Repair
64.7K
64.7K
Fixing Double-strand Breaks
12.5K
The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
12.5K


