[在MUTYH相关多重症中进行十二指肠内镜查和治疗的结果]
Sonja Haas1,2, Christian P Strassburg1,2, Jacob Nattermann1,2
1Medizinische Klinik und Poliklinik I, Universitätsklinikum Bonn, Bonn, Deutschland.
Zentralblatt fur Chirurgie
|November 23, 2023
概括
与MUTYH相关的多重症 (MAP) 患者经常患上十二指腺腺瘤,但内镜监测显示没有进展到高度发育不良或癌症. 多学科护理对于管理这种罕见的遗传疾病至关重要.
科学领域:
- 遗传学和基因组学 在
- 胃肠病学 胃肠病学
- 在瘤学瘤学.
背景情况:
- 与MUTYH相关的多重症 (MAP) 是一种罕见的自体相衰退性疾病.
- 由MUTYH基因的生殖基因突变引起,导致许多结直肠腺瘤和结直肠癌风险增加.
- 此外,MAP患者也面临上部胃肠道多和十二指肠癌的风险增加.
研究的目的:
- 为了前性地评估患有致病性MUTYH变体的患者的上部胃肠道发现.
- 评估MAP患者十二指腺腺瘤的发生率和进展情况.
- 为了确定内镜监测在MAP中管理十二指肠病理方面的有效性.
主要方法:
- 对15名患有致病性MUTYH变异的患者进行了回顾性分析.
- 从2012年到2023年,预计会记录食管胃管腺镜检查 (EGD) 的结果.
- 十二指甲腺瘤的组织病理学审查和对形和恶性瘤的评估.
主要成果:
- 15名患者中有5名 (33%) 患有十二指腺瘤,共检测到48例.
- 所有检测到的十二指腺瘤都是带有低度内皮质瘤 (LGIEN) 的管状腺瘤.
- 在中位数为115个月的监测期间,没有观察到高度内皮质瘤 (HGIEN) 或十二指腺癌.
结论:
- 在MAP患者中,十二指甲腺瘤的患病率比之前报告的更高.
- 内镜监测似乎有效地管理MAP中的十二指腺瘤,防止HGIEN或癌症的进展.
- 对MAP患者的管理应在专门的遗传性瘤中心进行.
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