Prevalence and outcomes of uncommon BCR‐ABL1 fusion transcripts in patients with chronic myeloid leukaemia: data from a single centre. (5th July 2018)

• Record Type: Journal Article
• Authors: Qin, Ya‐Zhen; Jiang, Qian; Jiang, Hao; Lai, Yue‐Yun; Shi, Hong‐Xia; Chen, Wen‐Min; Yu, Lu; Huang, Xiao‐Jun
• Is Part Of: British journal of haematology. Volume 182:Number 5(2018)
• Page Start: 693
• Page End: 700
• Publication Date: 2018-07-05
• Subjects: chronic myeloid leukaemia -- uncommon BCR‐ABL1 transcripts -- tyrosine kinase inhibitors -- cytogenetic and molecular response -- outcome; Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.15453
• Languages: English
• ISSNs: 0007-1048

Abstract

Summary: 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 (1·7%) 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 = 0·0004 and 0·016) and major molecular response (MMR, P = 0·0018 and 0·0035), and patients with the e13a3/e14a3 transcript ( n = 10) had significantly increased probabilities of 1‐year CCyR ( P = 0·0072) and MMR ( P = 0·0073). Patients with the e19a2 transcript had low probabilities of 2‐year event‐free survival (EFS, P = 0·0004) and progression‐free survival ( P = 0·0067), and patients with the e1a2 transcript had low probability of 2‐year EFS ( P < 0·0001). Therefore, uncommon BCR‐ABL1 fusion transcripts are rare and diverse in patients with CML and may be relevant for TKI therapy outcomes.