无法解释的hamartomatous和hyperplastic多重症患者的分子分类
Kevin Sweet1, Joseph Willis, Xiao-Ping Zhou
1Clinical Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, USA.
JAMA
|November 17, 2005
概括
对患有不明多发症的患者进行了广泛的分子分析,发现了22%的生殖线突变,包括青少年多发症的潜在新基因 (ENG). 组织病理学审查对于准确的诊断和管理至关重要.
科学领域:
- 胃肠病学 胃肠病学
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
背景情况:
- 许多患有hamartomatous或hyperplastic/混合多重症的患者缺乏确定的诊断,这阻碍了适当的管理.
- 准确的综合征诊断对于指导患者监测和预防性手术决策至关重要.
研究的目的:
- 通过全面的分子分析,系统地分类患有不明原因的哈马托马图斯或超塑性/混合多重症的患者.
- 重新评估基因病理学发现与分子数据相结合.
主要方法:
- 对49名无血缘关系的患者进行前性研究,这些患者患有不明原因的多重症.
- 在PTEN,BMPR1A,STK11,SMAD4,ENG,BRAF,MYH和BHD中寻找突变的生殖系DNA分析.
- 聚菌组织病理学结果的集中再审核.
主要成果:
- 在49名患者中有11名 (22%) 发现了生殖系突变.
- 在两名患有青少年多发症的患者中发现了与先前与遗传性出血端膜病症相关的ENG基因NG的突变.
- 在初始和重新审查的组织病理学发现之间注意到了显著的差异.
结论:
- 系统的分子分类揭示了青少年多重症的潜在新型敏感性基因 (ENG).
- 生殖线突变的高患病率强调了在不明原因的多综合征中需要进行广泛的遗传分析的需要.
- 由胃肠道病理学家进行例行组织病理学再检查,建议用于准确的综合征诊断和管理.
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