管理遗传性扩散性胃癌 (HDGC) 的当前进展和挑战:叙述性综述
L van der Sluis1,2, J M van Dieren2, R S van der Post3
1Department of Gastroenterology, Radboud university medical centre, Nijmegen, The Netherlands.
Hereditary cancer in clinical practice
|October 8, 2024
概括
由CDH1致病变体 (PVs) 引起的遗传性扩散性胃癌 (HDGC) 风险可能比以前认为的要低. 这表明,对于所有携带者来说,应该重新考虑预防性全胃切除术 (PTG),以支持监测策略.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 胃肠病学 胃肠病学
背景情况:
- CDH1致病变体 (PVs) 与遗传性扩散性胃癌 (HDGC) 有关,增加了扩散性胃癌 (DGC) 和叶状乳腺癌 (LBC) 的风险.
- 预防性全胃切除术 (PTG) 是由于DGC预后不佳而导致CDH1PV携带者的DGC风险降低的标准.
- 广泛的基因检测可以识别更多的CDH1PV携带者,包括那些癌症史或透率较低的携带者.
研究的目的:
- 评估目前对所有CDH1致病变体 (PV) 携带者进行预防性全胃切除术 (PTG) 的建议.
- 探索替代管理策略,如对CDH1光伏载体进行内镜监测.
- 改进监测目标,以确定非典型的透性病变,而不是所有早期病变.
主要方法:
- 审查最近关于CDH1光伏载体中先进DGC的累积终身风险的研究结果.
- 在CDH1光伏运营商中分析PTG拒绝原因.
- 检查PTG标本中的病理发现,包括早期的标签环细胞 (SRC) 病变.
主要成果:
- 据估计,CDH1光伏载体中先进DGC的累积寿命风险比以前认为的要低得多 (13-19%).
- 大约三分之一的CDH1光伏载体由于其终身的身体和心理影响而下降PTG.
- PTG标本经常含有小的,低阶段的 (pT1a) 标签环细胞 (SRC) 病变,具有不可预测的行为.
结论:
- 在所有CDH1PV携带者中对PTG的统一建议需要重新评估,因为预计的晚期DGC风险较低,患者对手术不情愿.
- 内镜监测成为一种潜在的替代策略,专注于检测更具侵略性的病变.
- 了解SRC病变的进展及其内镜/组织学特征对于个性化管理CDH1PV载体至关重要.
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