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e13a2 and e14a2 are the most frequent transcript types of the fusion gene in chronic myeloid leukemia (CML). The current goal with tyrosine kinase inhibitors (TKI) is to achieve sustained deep molecular response (DMR) in order to discontinue TKI treatment and remain in the so-called treatment-free remission (TFR) phase, but biological factors associated with these goals are not well established. This study aimed to determine the effect of transcript type on TFR in patients receiving frontline treatment with imatinib (IM) or second-generation TKI (2G-TKI). Patients treated at least 119 months with IM presented less post-discontinuation relapse than those that discontinued IM before 119 months ( = 0.005). In addition, cases with the e14a2 transcript type treated at least 119 months with IM presented a better TFR ( = 0.024). On the other hand, the type of transcript did not affect the cytogenetic or molecular response in 2G-TKI treated patients; however, the use of 2G-TKI may be associated with higher and earlier DMR in patients with the e14a2 transcript.
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http://dx.doi.org/10.3390/jcm13030779 | DOI Listing |
Ann Hematol
July 2025
Department of Internal Medicine, Cancer Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
The immunological mechanism of treatment-free remission is not clearly understood. We aimed to identify immune-related genetic differences that predict molecular relapse after tyrosine kinase inhibitor (TKI) discontinuation in patients with chronic phase chronic myeloid leukemia (CML). In this prospective multicenter study, patients who were treated with TKI for at least 3 years discontinued TKI and were monitored for loss of major molecular response.
View Article and Find Full Text PDFJ Clin Med
March 2025
Department of Experimental Hematooncology, Medical University of Lublin, 20-093 Lublin, Poland.
: Chronic myeloid leukemia (CML) is characterized by the presence of the fusion gene, most commonly in the e14a2 or e13a2 variants. Studies show that the transcript type in CML may be important for achieving treatment-free remission (TFR). This study aimed to immunologically characterize CML patients with e13a2 and e14a2 transcripts to search for differences that may contribute to achieving remission in patients after therapy withdrawal.
View Article and Find Full Text PDFGene
May 2025
Division of Molecular Pathology, Department of Pathology, Hong Kong Sanatorium & Hospital, Hong Kong, China. Electronic address:
Objective: Clinically significant structural variation (SV), notably chromosomal translocation, results in the formation of fusion genes that drive leukaemogenesis. Detection of SVs is vital in clinical diagnosis, prognosis and therapy of haematological malignancies. Current methods for SV identification are low in sensitivity for cryptic cases and time-consuming for complex cases.
View Article and Find Full Text PDFJ Mol Diagn
April 2025
Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany. Electronic address:
Achieving a stable deep molecular response with the option to discontinue tyrosine kinase inhibitor treatment is the new therapeutic goal for patients with chronic myeloid leukemia (CML). Several studies have shown that individuals expressing the BCR::ABL1 e14a2 transcript achieve a major molecular response more rapidly than those with the e13a2 transcript. However, technical issues may have confounded these observations, and data for pediatric patients are limited.
View Article and Find Full Text PDFFront Oncol
December 2024
Institute of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, China.
The coexistence of three or more transcripts in one patient with chronic myeloid leukemia (CML) is rarely reported. Thus, the disease progression and drug response are still unknown. This case report aimed to explore the drug response of CML with variant transcripts and to enrich the clinical treatment of rare types of CML.
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