Genetic and Transcriptional Landscape of Plasma Cells in POEMS Syndrome

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461397
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Hematology
• Research Institution: Chiba University
• Principal Investigator: Nakaseko Chiaki 千葉大学, 大学院医学研究院, 特任教授 (30323398)
• Co-Investigator(Renkei-kenkyūsha): MIMURA Naoya 千葉大学, 医学部付属病院, 助教 (00710229)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: POEMS症候群 / Whole exome sequencing / RNA sequencing / 次世代シークエンサー / VEGF

Outline of Final Research Achievements

POEMS syndrome is a rare paraneoplastic disease associated with monoclonal plasma cells; however, the pathogenic importance of plasma cells is not clear. We performed comprehensive genetic analyses of plasma cells in patients with POEMS syndrome. A total of 359 somatic mutations in 334 genes were identified in 14 patients. None of the driver gene mutations frequently found in multiple myeloma (MM) were detected. Targeted sequencing of 52 selected genes identified 10 recurrently mutated genes. RNA sequencing revealed that the transcriptional profiles of POEMS syndrome were distinct from those of MGUS and MM. VEGF was not significantly upregulated and genes associated with tumorigenesis, such as MYC, were downregulated. We found that the genetic and transcriptional profiles of plasma cells in POEMS syndrome were distinct from those of other plasma cell disorders such as MM and MGUS, indicating unique properties of clonal plasma cells in the pathogenesis of POEMS syndrome.

Free Research Field

血液内科