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論文
タイトル
タイトル(英)
Archival bone marrow smears are useful in targeted next-generation sequencing for diagnosing myeloid neoplasms.
参照URL
https://researchmap.jp/obokikeisuke/published_papers/35032544
著者
著者(英)
Daichi Sadato,Chizuko Hirama,Ai Kaiho-Soma,Ayaka Yamaguchi,Hiroko Kogure,Sonomi Takakuwa,Mina Ogawa,Noriko Doki,Kazuteru Ohashi,Hironori Harada,Keisuke Oboki,Yuka Harada
担当区分
概要
概要(英)
Gene abnormalities, including mutations and fusions, are important determinants in the molecular diagnosis of myeloid neoplasms. The use of bone marrow (BM) smears as a source of DNA and RNA for next-generation sequencing (NGS) enables molecular diagnosis to be done with small amounts of bone marrow and is especially useful for patients without stocked cells, DNA or RNA. The present study aimed to analyze the quality of DNA and RNA derived from smear samples and the utility of NGS for diagnosing myeloid neoplasms. Targeted DNA sequencing using paired BM cells and smears yielded sequencing data of adequate quality for variant calling. The detected variants were analyzed using the bioinformatics approach to detect mutations reliably and increase sensitivity. Noise deriving from variants with extremely low variant allele frequency (VAF) was detected in smear sample data and removed by filtering. Consequently, various driver gene mutations were detected across a wide range of allele frequencies in patients with myeloid neoplasms. Moreover, targeted RNA sequencing successfully detected fusion genes using smear-derived, very low-quality RNA, even in a patient with a normal karyotype. These findings demonstrated that smear samples can be used for clinical molecular diagnosis with adequate noise-reduction methods even if the DNA and RNA quality is inferior.
出版者・発行元
出版者・発行元(英)
誌名
誌名(英)
PloS one
16
7
開始ページ
e0255257
終了ページ
出版年月
2021年
査読の有無
招待の有無
掲載種別
研究論文(学術雑誌)
ISSN
DOI URL
https://doi.org/10.1371/journal.pone.0255257
共同研究・競争的資金等の研究課題
研究者
大保木 啓介 (オオボキ ケイスケ)