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全国范围内的微卫星不稳定和/或不匹配的真实世界数据癌症的修复缺陷:患病率和测试模式

Elena Fountzilas^1,2, Theofanis Papadopoulos³, Eirini Papadopoulou⁴

¹Department of Medical Oncology, St. Lukes's Clinic, 55236 Thessaloniki, Greece.

Diagnostics (Basel, Switzerland)

|June 19, 2024

概括

希腊癌症患者的微卫星不稳定性 (MSI) 和不匹配修复 (MMR) 测试显示,MSI高/不足的MMR在不同瘤类型的患病率不同. 随着时间的推移,测试增加,MSI和MMR状态之间具有很高的一致性.

科学领域:

在瘤学瘤学.
分子诊断学分子诊断
癌症基因组学癌症基因组学

背景情况:

微卫星不稳定性 (MSI) 和不匹配修复 (MMR) 状态是瘤学的关键生物标志物.
精确确定MSI/MMR状态对癌症治疗和预后具有重大临床影响.

研究的目的:

评估希腊各种癌症类型中高MSI (MSI-H) /不足MMR (dMMR) 的流行情况.
分析随着时间的推移MSI/MMR测试模式的趋势.
评估MSI和MMR测试结果之间的一致性.

主要方法:

来自希腊各地18个实验室的MSI/MMR测试数据的回顾性分析.
包括来自不同癌症类型的7916个瘤样本.
对904个样本的MSI和MMR状态进行对对分析.

主要成果:

随着时间的推移,MSI/MMR测试对结直肠癌 (CRC) 和其他瘤类型的检测显著增加 (p < 0.05).
在子宫内膜癌 (20.9%) 中,MSI-H/dMMR的患病率最高.
在配对样本中,MSI和MMR测试之间发现了2.3%的整体不一致率.

结论:

在大多数瘤类型中存在MSI-H/dMMR,尽管频率不同.
观察到医疗瘤学家对MSI/MMR测试的转诊模式越来越多.
证实了MSI和MMR状态之间的高度一致性,支持了这两种测试方法的可靠性.

关键词:

希腊希腊希腊希腊希腊希腊这是一个MMRMMR.在MSI中,它是MSI.生物标志物生物标志物免疫疗法免疫疗法在全国范围内,在全国范围内.现实世界的数据数据.

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