2021 Fiscal Year Final Research Report

Elucidation of the molecular pathology of AL amyloidosis by gene expression analysis of bone marrow plasma cells

Research Project

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Project/Area Number	19K08831
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Multi-year Fund
Section	一般
Review Section	Basic Section 54010:Hematology and medical oncology-related
Research Institution	Chiba University
Principal Investigator	Sakaida Emiko 千葉大学, 大学院医学研究院, 准教授 (60422218)
Co-Investigator(Kenkyū-buntansha)	三村尚也千葉大学, 医学部附属病院, 講師 (00422220) 塚本祥吉千葉大学, 医学部附属病院, 特任助教 (00814617) 中世古知昭国際医療福祉大学, 医学部, 主任教授 (30323398) 大和田千桂子国際医療福祉大学, 医学部, 准教授 (80436352) 武内正博千葉県がんセンター(研究所), 腫瘍・血液内科, 部長 (50466702)
Project Period (FY)	2019-04-01 – 2022-03-31
Keywords	ALアミロイドーシス / 形質細胞類縁疾患 / 次世代シークエンサー / 腫瘍クローン
Outline of Final Research Achievements	We analyzed the gene expression of AL amyloidosis using a next-generation sequencer, identified monoclonal plasma cells, and attempted to elucidate the pathophysiology. It has become possible to detect AL amyloidosis monoclonal plasma cells in bone marrow and to accurately identify the tumor clone ratio, which has been difficult to accurately detect tumor clones. In this study, it was revealed that in AL amyloidosis, a small number of monoclonal plasma cells in bone marrow plasma cells produce a sufficient amount of abnormal amyloid protein to cause symptoms, and IGLV repatoa and organ specificity Regarding the relevance, it was suggested that it may be possible to show the existence of the disordered organ specificity of Japanese IGLV plasma cells, which is different from the previously reported overseas.
Free Research Field	造血器腫瘍
Academic Significance and Societal Importance of the Research Achievements	全身性病変を有するALアミロイドーシスは、指定難病となっている疾患である。本研究はNGSでALアミロイドーシスの骨髄中の形質細胞の免疫グロブリン遺伝子を網羅的に解析した日本で初の研究であり、今後症例数を増やすことで海外とは異なる日本人におけるIGLVレパトアの障害臓器特異性の存在を示すことができる可能性が示唆された。本研究の成果から、今後の病態解明などに寄与することが期待される。