[一个Lynch综合征病例被诊断为MSI-H性结肠炎与结肠癌相关]
Takehiro Shiraishi1, Yoshiko Mori, Noriyasu Chika
1Dept. of Digestive Tract and General Surgery, Saitama Medical Center.
Gan to kagaku ryoho. Cancer & chemotherapy
|February 14, 2025
概括
这一案例突出了性结肠炎和林奇综合征在患有结肠癌的年轻人身上罕见的共存. 早期检测和基因测试对于管理这些复杂的疾病至关重要.
科学领域:
- 胃肠病学 胃肠病学
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
背景情况:
- 性结肠炎 (UC) 增加了结肠直肠癌的风险,由于慢性炎症.
- 高频微卫星不稳定性 (MSI-H) 在林奇综合征 (LS) 中很常见,并且在性结肠炎相关瘤 (UCAN) 中发现.
- UCAN通常发生在年轻患者身上,这给诊断带来了挑战.
研究的目的:
- 报告一种罕见的性结肠炎和林奇综合征同时存在的罕见病例.
- 强调在患有UCAN的年轻患者中考虑林奇综合征的重要性.
- 突出UCAN和LS之间临床和病理学发现的相似之处.
主要方法:
- 一个35岁的男性患有性结肠炎,诊断出患有上升性结肠癌的病例报告.
- 手术切除,组织病理学检查和MSI检测.
- 针对不匹配修复蛋白质 (MSH2,MSH6) 的免疫组织化学和用于识别MSH2基因变异的桑格测序.
主要成果:
- 这位患者在35岁时出现了晚期结肠癌 (pT4a pN1bcM0,pStage IIIb).
- 证实了MSI-H,失去了MSH2和MSH6的表达.
- 基因检测显示MSH2中可能存在一种致病变体,证实了林奇综合征.
结论:
- 性结肠炎和林奇综合征的同时存在,尽管很少见,但应在临床管理中考虑.
- UCAN的临床和组织病理特征可能与林奇综合征相关的结直肠癌重叠.
- 对疑似林奇综合征的患者来说,及时诊断和遗传咨询至关重要.
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