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在中国人口中诊断遗传性结直肠癌的一站式方法

Cong Li^1,2, Wang Song^1,2, Yun Xu^1,2

¹Department of Colorectal Surgery, Fudan University Shanghai Cancer Center, Shanghai, China.

Journal of gastroenterology and hepatology

|September 26, 2023

概括

一种新的ColonCore方法通过分析瘤DNA,有效地识别遗传性结肠直肠癌 (HCRC),从而节省了临床诊断的时间. 这种方法准确地预测了林奇综合征和家族腺瘤多重症的生殖系变异.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
分子诊断学分子诊断

背景情况:

目前遗传性结直肠癌 (HCRC) 的鉴定是耗时的.
开发更快的诊断方法对于临床实践至关重要.

研究的目的:

开发和评估一种节省时间的方法,ColonCore,用于诊断HCRC.
评估仅用于瘤的下一代测序 (NGS) 在预测生殖系变异方面的有效性.

主要方法:

预期招募100名疑似HCRC患者 (队列1) 和追溯纳入116名MMR缺乏的CRC患者 (队列2).
瘤和匹配的正常组织/白细胞样本接受了NGS.
结肠核心方法 (仅瘤NGS) 与常规方法 (WBC/正常组织NGS) 相比较.

主要成果:

在第1队列中,ColonCore诊断了17例林奇综合征 (LS) 和14例家族腺瘤多重症 (FAP) 病例,对LS和FAP的敏感度为100%.
它在另外两名患者中发现了不符合标准HCRC标准的生殖系变异.
在队列2中,ColonCore实现了85.7%的灵敏度和85.7%的PPV用于识别LS患者.

结论:

科伦Core方法显示出作为预测HCRC相关的生殖系变异的可接受工具的潜力.
在CRC患者中进行NGS测试对于准确的诊断和量身定制的治疗策略至关重要.

关键词:

诊断诊断诊断诊断诊断这是一种家族性腺瘤多重症.遗传性结直肠癌是一种遗传性结直肠癌.林奇综合征是什么? 林奇综合征是什么?这是下一代测序.

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