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一个患有林奇综合征的男孩的复发性乳头膀瘤

Rafael Tua-Caraccia¹, Austin Livingston¹, Jonathan C Routh¹

¹Department of Urology, Duke University School of Medicine, Durham, NC.

|July 8, 2023

概括

林奇综合征 (LS) 是一种增加癌症风险的遗传疾病. 这项研究探讨了LS和儿童膀癌之间的潜在联系,这是以前没有报道的联系.

科学领域:

遗传学和瘤学在
尿道瘤学尿道瘤学

背景情况:

林奇综合征 (LS) 是一种自体主导性疾病,由DNA不匹配修复基因 (例如PMS2,MLH1,MSH2,MSH6) 或EPCAM缺失的突变引起.
最常见的LS尿道并发症是上道泌尿道癌 (UTUC),影响多达20%的患者.
新出现的证据表明,LS患者的膀癌风险较高,尽管数据仍然有限.

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