アズマ　ケンコウ   Azuma Kenkou   東　剣虹    所属   研究施設 研究施設    職種   助教
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Genetic variations of bone marrow mesenchymal stromal cells derived from acute leukemia and myelodysplastic syndrome by targeted deep sequencing.
掲載誌名	正式名：Leukemia research 略　 称：Leuk Res ISSNコード：(1873-5835)0145-2126(Linking)
巻・号・頁	62,pp.23-28
著者・共著者	Azuma Kenko, Umezu Tomohiro, Imanishi Satoshi, Asano Michiyo, Yoshizawa Seiichiro, Katagiri Seiichiro, Ohyashiki Kazuma, Ohyashiki Junko H
担当区分	筆頭著者
発行年月	2017/11
概要	Bone marrow mesenchymal stromal cells (MSCs), which support proliferation and differentiation of hematopoietic stem cells, may play a crucial role in the pathogenesis of myeloid neoplasms. To determine whether MSCs in myeloid neoplasms harbor distinct somatic mutations that may affect their function, we used a targeted gene sequencing panel containing 50 myeloid neoplasm-associated genes with coverage of ≥500. We compared the genetic alterations between MSCs and bone marrow hematopoietic (BM) cells from patients with acute leukemia (n=5) or myelodysplastic syndrome (MDS, n=5). Non-synonymous somatic mutations, such as DNMT3A-R882H and FLT3-D835Y, were only detected in BM cells with high allelic frequency. We found several non-synonymous genetic variants overlapping BM cells and MSCs, including TP53 and ASXL1, partially owing to the heterogenous cell fraction of MSC samples and lineage fidelity. We also found MSC-specific genetic variants with very low allelic frequency (7% to 8%), such as NF1-G2114D and NF1-G140. Further studies in large cohorts are needed to clarify the molecular properties of MSCs including age-related genetic alterations by targeted deep sequencing.
DOI	10.1016/j.leukres.2017.09.008
PMID	28964959