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タイトル: Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemia
著者: Ochi, Yotaro  kyouindb  KAKEN_id  orcid https://orcid.org/0000-0001-8472-6164 (unconfirmed)
Yoshida, Kenichi
Huang, Ying-Jung
Kuo, Ming-Chung
Nannya, Yasuhito  KAKEN_id
Sasaki, Ko
Mitani, Kinuko
Hosoya, Noriko
Hiramoto, Nobuhiro
Ishikawa, Takayuki
Branford, Susan
Shanmuganathan, Naranie
Ohyashiki, Kazuma
Takahashi, Naoto
Takaku, Tomoiku
Tsuchiya, Shun
Kanemura, Nobuhiro
Nakamura, Nobuhiko
Ueda, Yasunori
Yoshihara, Satoshi
Bera, Rabindranath
Shiozawa, Yusuke
Zhao, Lanying
Takeda, June
Watatani, Yosaku
Okuda, Rurika
Makishima, Hideki  KAKEN_id  orcid https://orcid.org/0000-0001-5983-8578 (unconfirmed)
Shiraishi, Yuichi
Chiba, Kenichi
Tanaka, Hiroko
Sanada, Masashi
Takaori-Kondo, Akifumi
Miyano, Satoru
Ogawa, Seishi
Shih, Lee-Yung
著者名の別形: 越智, 陽太郎
吉田, 健一
南谷, 泰仁
塩澤, 裕介
趙, 蘭英
竹田, 淳恵
綿谷, 陽作
奥田, 瑠璃花
牧島, 秀樹
髙折, 晃史
小川, 誠司
キーワード: Cancer genetics
Haematological cancer
Mutation
発行日: 2021
出版者: Springer Nature
誌名: Nature Communications
巻: 12
論文番号: 2833
抄録: Blast crisis (BC) predicts dismal outcomes in patients with chronic myeloid leukaemia (CML). Although additional genetic alterations play a central role in BC, the landscape and prognostic impact of these alterations remain elusive. Here, we comprehensively investigate genetic abnormalities in 136 BC and 148 chronic phase (CP) samples obtained from 216 CML patients using exome and targeted sequencing. One or more genetic abnormalities are found in 126 (92.6%) out of the 136 BC patients, including the RUNX1-ETS2 fusion and NBEAL2 mutations. The number of genetic alterations increase during the transition from CP to BC, which is markedly suppressed by tyrosine kinase inhibitors (TKIs). The lineage of the BC and prior use of TKIs correlate with distinct molecular profiles. Notably, genetic alterations, rather than clinical variables, contribute to a better prediction of BC prognosis. In conclusion, genetic abnormalities can help predict clinical outcomes and can guide clinical decisions in CML.
著作権等: © The Author(s) 2021
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.
URI: http://hdl.handle.net/2433/276756
DOI(出版社版): 10.1038/s41467-021-23097-w
PubMed ID: 33990592
出現コレクション:学術雑誌掲載論文等

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