V280G Mutation, Potential Role in Imatinib Resistance: First Case Report

Introduction: The identification of BCR-ABL expression as the defining leukemogenic event in chronic myeloid leukemia (CML) and the introduction of BCR-ABL tyrosine kinase inhibitors in 2001 have revolutionized disease management, leading to a reduction in mortality rates and accordingly an increase...

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Bibliographic Details
Published in:Clinical Medicine Insights. Oncology Vol. 2017; no. 11
Main Authors: Ana P Azevedo, Alice Reichert, Celina Afonso, Maria D Alberca, Purificação Tavares, Fernando Lima
Format: Journal Article
Language:English
Published: SAGE Publishing 06-04-2017
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Summary:Introduction: The identification of BCR-ABL expression as the defining leukemogenic event in chronic myeloid leukemia (CML) and the introduction of BCR-ABL tyrosine kinase inhibitors in 2001 have revolutionized disease management, leading to a reduction in mortality rates and accordingly an increase in the estimated prevalence of CML. Case report: Based on medical records and clinical follow-up, the authors present the case of a Philadelphia chromosome–positive CML patient who developed resistance to imatinib. Quantitative reverse transcription-polymerase chain reaction testing revealed a V280G BCR-ABL mutation. Discussion and conclusions: This is the first report describing a new BCR-ABL kinase domain mutation—V280G—that might be associated with resistance to imatinib. Approximately 15% to 30% of patients treated with imatinib discontinue treatment due to resistance or intolerance. More than 90 BCR-ABL mutations were detected so far, conferring variable degrees of drug resistance, with consequent clinical, therapeutic, and prognostic impact.
ISSN:1179-5549
1179-5549
DOI:10.1177/1179554917702870