大疱性表皮松解症
皮肤病科
基底细胞
微卫星不稳定性
病理
医学
生物
遗传学
微卫星
基因
等位基因
作者
Catherine A.A. Lee,Si-Pei Wu,Yuen Ting Chow,Eric Kofman,Valencia Williams,Megan Riddle,Cindy R. Eide,Christen L. Ebens,Markus H. Frank,Jakub Tolar,Kristen P. Hook,Saud H. AlDubayan,Natasha Y. Frank
标识
DOI:10.1016/j.jid.2023.11.025
摘要
Recessive dystrophic epidermolysis bullosa (RDEB) is a severely debilitating disorder caused by mutations in COL7A1 and is characterized by extreme skin fragility, chronic inflammation and fibrosis. A majority of RDEB patients develop squamous cell carcinoma (SCC), a highly aggressive skin cancer with limited treatment options currently available. In this study, we utilized an approach leveraging WGS and RNA-seq across three different tissues in a single RDEB patient to gain insight into possible mechanisms of RDEB-associated SCC progression and to identify potential therapeutic options. As a result, we identified PLK-1 as a possible candidate for targeted therapy and discovered microsatellite instability and accelerated aging as factors potentially contributing to the aggressive nature and early onset of RDEB SCC. By integrating multi-tissue genomic and transcriptomic analyses in a single patient, we demonstrate the promise of bridging the gap between genomic research and clinical applications for developing tailored therapies for patients with rare genetic disorders such as RDEB.
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