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2022, Number 4

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Rev Hematol Mex 2022; 23 (4)

A 35-nucleotide insertion mutation in BCR-ABL1 in a patient with chronic myeloid leukemia in relapse after allogeneic stem cell transplantation

Vidal-Sánchez IE, Alvidrez A, Acosta B, Cervera E, Barranco-Lampón GI

Language: English
References: 15
Page: 254-259
PDF size: 353.79 Kb.


ABSTRACT

Background: Tyrosine kinase inhibitors (TKI) are crucial when treating patients with chronic myeloid leukemia, as they are considered first-line therapy, replacing other potential curative strategies, such as stem cell transplantation (SCT). However, several patients in the chronic phase fail to achieve optimal response to initial therapy with imatinib, and alternatives should be considered.
Clinical case: A 53-year-old female patient diagnosed with Philadelphia chromosome- positive chronic phase-chronic myeloid leukemia, initially treated with imatinib. She underwent a failed allogeneic SCT (allo-SCT), for which imatinib therapy was reinitiated and, after several years, drug resistance was documented. The BCR-ABL135INS mutation was found, and treatment with dasatinib, a second-generation TKI (2GTKI), was started. After twelve months on dasatinib, neither cytogenetic nor major molecular responses have been achieved.
Conclusions: Mutations in the BCR-ABL1 gene causing alternative splicing variants are only one of the many proposed mechanisms of TKI resistance and should be taken into consideration when there is a failure to achieve response milestones to standard treatment.


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