BCR-ABL V280G mutation, potential role in imatinib resistance: First case report

A.P. Azevedo, A. Reichert, C. Afonso, M.D. Alberca, P. Tavares, F. Lima

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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. © The Author(s) 2017.
Original languageEnglish
Article number1179554917702870
JournalClinical Medicine Insights: Oncology
Publication statusPublished - 2017


  • CML
  • Imatinib
  • Mutation
  • Nilotinib
  • alpha interferon
  • BCR ABL protein
  • glycine
  • hydroxyurea
  • imatinib
  • nilotinib
  • valine
  • aged
  • amino acid substitution
  • Article
  • BCR ABL gene
  • case report
  • chromosome 22
  • chromosome 9
  • chronic myeloid leukemia
  • clinical article
  • disease course
  • drug dose escalation
  • drug withdrawal
  • EUTOS score
  • female
  • gene
  • gene mutation
  • gene sequence
  • Hasford score
  • human
  • leukoderma
  • reverse transcription polymerase chain reaction
  • Sokal score
  • splenomegaly


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