在接受分子残留疾病检测的结直肠癌患者中,不充分遵守生殖线检测建议
Suzanne Schrock-Kelley1, Vivienne Souter1, Michael J Hall2
1Natera Inc, Austin, TX, USA.
Communications medicine
|September 30, 2024
概括
许多接受分子残留疾病测试的结直肠癌患者没有接受推的生殖线多基因小组测试. 需要改善在社区瘤机构对遗传性癌症的评估的准入和教育.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 癌症研究 癌症研究
背景情况:
- 大约15%的结直肠癌 (CRCs) 与生殖系突变有关.
- 基于DNA的分子残留疾病 (MRD) 测定越来越多地用于CRC管理.
- 证据支持MRD测试对CRC患者的临床实用性.
研究的目的:
- 评估在接受MRD分析的CRC患者中遗传性癌症的生殖线多基因小组测试 (MGPT) 的吸收率.
- 在社区瘤学环境中评估MGPT.
主要方法:
- 80名接受MRD测试的CRC患者的回顾性研究 (2022年1月至3月).
- 临床数据的审查,包括测试要求,病理学报告和临床笔记.
- 对不匹配修复 (MMR) 缺陷测试的评估,诊断时的年龄,家族病史和MGPT命令/建议.
主要成果:
- 只有6.3% (5/80) 的患者记录了生殖线MGPT.
- 81.3% (65/80) 有记录的MMR检测.
- 在33名符合国家综合癌症网络 (NCCN) 高风险评估标准的患者中,只有2名患有MGPT.
结论:
- 许多接受MRD测试并符合NCCN生殖线MGPT标准的CRC患者没有接受此评估.
- 常规的MMR状态评估是常见的,但生殖线检测的吸收率很低.
- 改善流程和教育是必要的,以增加在社区环境中为CRC患者提供生殖基因检测.
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