Title Prevalence and outcomes of uncommon BCR-ABL1 fusion transcripts in patients with chronic myeloid leukaemia: data from a single centre
Authors Qin, Ya-Zhen
Jiang, Qian
Jiang, Hao
Lai, Yue-Yun
Shi, Hong-Xia
Chen, Wen-Min
Yu, Lu
Huang, Xiao-Jun
Affiliation Peking Univ, Peoples Hosp, Beijing Key Lab Haematopoiet Stem Cell Transplan, Inst Haematol, Beijing, Peoples R China.
Soochow Univ, Collaborat Innovat Ctr Haematol, Suzhou, Peoples R China.
Peking Tsinghua Ctr Life Sci, Beijing, Peoples R China.
Peking Univ, Peoples Hosp, Inst Haematol, 11 Xizhimen South St, Beijing 100044, Peoples R China.
Keywords chronic myeloid leukaemia
uncommon BCR-ABL1 transcripts
tyrosine kinase inhibitors
cytogenetic and molecular response
outcome
TYROSINE KINASE INHIBITORS
DOMAIN MUTATION ANALYSIS
BCR-ABL TRANSCRIPTS
CML PATIENTS
EUROPEAN LEUKEMIANET
SH3 DOMAIN
RECOMMENDATIONS
INSERTION
FREQUENCY
SEQUENCE
Issue Date 2018
Publisher BRITISH JOURNAL OF HAEMATOLOGY
Citation BRITISH JOURNAL OF HAEMATOLOGY. 2018, 182(5), 693-700.
Abstract To explore the type, prevalence and outcomes in chronic myeloid leukaemia (CML) patients with uncommon BCR-ABL1 transcripts in the era of tyrosine kinase inhibitors (TKIs), uncommon BCR-ABL1 transcripts were screened in 4750 patients by multiplex polymerase chain reaction (PCR), and type-specific real-time quantitative PCR was regularly performed for molecular monitoring. A total of 19 uncommon transcripts, including e1a2, e1a3, e6a2, e8a2, e12a2, unusual e13a2, e13a3, unusual e14a2, e14a3 and e19a2 were identified in 83 (1<bold></bold>7%) patients. The three most frequent types were e19a2, e13a3/e14a3 and e1a2. Compared with the 571 newly diagnosed CML patients in chronic phase with common e13a2/e14a2 transcripts receiving frontline imatinib therapy, patients with the e19a2 (n=16) and e1a2 (n=11) transcripts had significantly reduced probabilities of 1-year complete cytogenetic response (CCyR, P=0<bold></bold>0004 and 0<bold></bold>016) and major molecular response (MMR, P=0<bold></bold>0018 and 0<bold></bold>0035), and patients with the e13a3/e14a3 transcript (n=10) had significantly increased probabilities of 1-year CCyR (P=0<bold></bold>0072) and MMR (P=0<bold></bold>0073). Patients with the e19a2 transcript had low probabilities of 2-year event-free survival (EFS, P=0<bold></bold>0004) and progression-free survival (P=0<bold></bold>0067), and patients with the e1a2 transcript had low probability of 2-year EFS (P<0<bold></bold>0001). Therefore, uncommon BCR-ABL1 fusion transcripts are rare and diverse in patients with CML and may be relevant for TKI therapy outcomes.
URI http://hdl.handle.net/20.500.11897/517462
ISSN 0007-1048
DOI 10.1111/bjh.15453
Indexed SCI(E)
PubMed
Medline
Appears in Collections: 人民医院

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