Open Access Journal
QUALIS
B1
2021-2024
quadriênio
Open Access Journal
B1
2021-2024
quadriênio
Artigos | Vol. 4 Issue 5 (2026)
Published in September 21, 2026
Chronic Myeloid Leukemia (CML) is a myeloproliferative neoplasm caused by the t(9;22) translocation, which forms the Philadelphia Chromosome by joining the BCR (chromosome 22) and ABL1 (chromosome 9) genes. This fusion generates the BCR-ABL1 gene, responsible for producing a constitutively active tyrosine kinase, leading to excessive proliferation of bone marrow cells and reduced programmed cell death, impairing normal hematopoiesis. This study aims to critically analyze the impact of the BCR-ABL1 gene on CML. The methodology included a literature review in the PubMed and SciELO databases, using descriptors and Boolean operators (AND/OR) to optimize the search. CML primarily affects adults between 40 and 60 years, presenting with fatigue, weight loss, and splenomegaly. The complete blood count typically shows leukocytosis with a left shift, and the diagnosis is confirmed by FISH and RT-qPCR for BCR-ABL1 detection. TKIs, such as imatinib, effectively control the disease but do not cure it, and resistance may occur, requiring continuous monitoring. Cryptic fusions highlight the importance of precise molecular testing. Among more than 100 mutations in the kinase domain, T315I is the main cause of resistance, along with mutations in the P-loop, C-loop, and A-loop. New therapies, such as asciminib, and strategies like intermittent TKI use, aim to overcome these limitations. Transplantation remains a curative option for refractory cases. There is still a need for approaches capable of eliminating minimal residual disease. The clinical and molecular characterization of CML reinforces BCR-ABL1 as a central marker, ensuring accurate diagnosis and more effective therapeutic guidance. However, resistant mutations demand new strategies, maintaining BCR-ABL1 as an essential target for future therapeutic advances..
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright (c) 2026 Letícia De Barros Godoi, Jhenifer Monike Da Silva Albuquerque , Maria Clara Regina Da Silva, James De Oliveira Junior, Izabela Oliveira de Barros
https://orcid.org/0009-0007-7963-7600