2021年12月
Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemia
Nature Communications
- 巻
- 12
- 号
- 1
- 記述言語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1038/s41467-021-23097-w
- 出版者・発行元
- Springer Science and Business Media LLC
<title>Abstract</title>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 <italic>RUNX1</italic>-<italic>ETS2</italic> fusion and <italic>NBEAL2</italic> 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.
- リンク情報
- ID情報
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- DOI : 10.1038/s41467-021-23097-w
- eISSN : 2041-1723