一个患有聚合酶校对相关多重症的患者在POLE变体中的多重十二指甲状腺上皮瘤
Hajime Miyazaki1, Osamu Dohi2, Eiko Maeda3
1Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kawaramachi Hirokoji Kamigyo-ku, Kyoto, 602-8566, Japan.
Clinical journal of gastroenterology
|February 22, 2024
概括
聚合酶校对相关多重症 (PPAP) 是一种罕见的遗传疾病,增加了癌症风险. 这一案例突出了与十二指肠瘤相关的POLE突变,强调了早期检测和监测的必要性.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 在瘤学瘤学.
- 胃肠病学 胃肠病学
背景情况:
- 聚合酶校对相关的多重症 (PPAP) 是一种由POLE或POLD1的生殖系变异引起的自体主导性疾病.
- PPAP显著增加了各种癌症的风险,特别是结直肠,十二指肠和子宫内膜恶性瘤.
研究的目的:
- 报告一个多个十二指肠瘤导致POLE突变的病例.
- 为了强调十二指肠瘤和PPAP中的POLE变体之间的关联.
- 为了强调监测和内镜管理在PPAP患者的十二指腺瘤的重要性.
主要方法:
- 一个43岁的女性患者的病例报告.
- 消化管胃肠内镜 (EGD) 用于诊断和内镜治疗十二指肠瘤.
- 基因检测显示了一个POLE变体 (c.1270C>G,p.Leu424Val).
- 审查患者多种结直肠和子宫内膜癌的病史和家族癌症史.
主要成果:
- 检测到多个十二指肠瘤,并通过内镜成功治疗.
- 发现了一种致病性POLE变种 (c.1270C>G,p.Leu424Val).
- 该患者有多种结直肠和子宫内膜癌的个人病史以及癌症的家族病史.
结论:
- 在患有结直肠癌,多种癌症或家族癌症史的患者中,应怀疑遗传性结直肠癌综合征,包括PPAP.
- 多基因面板测序对于诊断PPAP有价值.
- 十二指管瘤在PPAP患者中很常见,有POLE变体,需要监视EGD进行早期检测和内镜治疗.
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