Somatic Mutations Confer Severe Peripheral Neuropathy in POEMS Syndrome-Associated Multicentric Castleman Disease

• 来源期刊: 神经科学通报（英文版）
• 年，卷（期）: 2020,（6）
• 页码范围: 664-666
• 页数: 3页
• 语种: 英文

摘要

Dear Editor, POEMS-associated multicentric Castleman disease (POEMS-MCD) is a subtype of MCD that presents POEMS symptoms (polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes) as well as the manifestations of MCD.Among these symptoms, polyneuropathy is a critical feature.However, its mechanism remains poorly understood.The present study presents a case of severe peripheral neuropathy in a POEMS-MCD patient.Whole-exome sequencing (WES), three-dimensional modeling, and protein stability analysis demonstrated that the mutation V49G in PDLIM5 resulted in instability of the protein, which may play a key role in the pathogenesis of peripheral neuropathy in POEMS-MCD.