Abstract

IntroductionBCR-ABL1, resulting from t(9;22), is the oncogenic driver of chronic myeloid leukemia and the therapeutic target of the disease. Molecular studies have been the gold standard modality for patient assessment since the advent of tyrosine kinase inhibitor therapy. In spite of that, there are cytogenetic abnormalities that can render the disease unresponsive to conventional therapy, thus making cytogenetics an important component of patient management guidelines.Case presentationWe present a case of a Tajik, Afghan patient with chronic myeloid leukemia with del(6)(q23.3q27), t(9;22)(q34;q11.2), monosomy 11, monosomy 12, and marker chromosome who, despite having typical clinical and hematological disease with initial response to therapy, progressed to blast crisis very early and thus required special interventions.ConclusionCytogenetic monitoring is an important pillar in the management of patients with chronic myeloid leukemia that cannot be ignored. It should therefore be a part of patient management not only during diagnosis but also during management. We present an unusual cytogenetic abnormality in a patient with chronic myeloid leukemia that resulted in early disease progression.

Highlights

  • breakpoint cluster region (BCR)-Abelson gene 1 (ABL1), resulting from t(9;22), is the oncogenic driver of chronic myeloid leukemia and the therapeutic target of the disease

  • Cytogenetic monitoring is an important pillar in the management of patients with chronic myeloid leukemia that cannot be ignored

  • We present an unusual cytogenetic abnormality in a patient with chronic myeloid leukemia that resulted in early disease progression

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Summary

Conclusion

We present a case of a patient with CML who had an unusual “complex” cytogenetic abnormality in addition to Ph that resulted in early blast crisis. Abbreviations ABL1: Abelson gene 1; BCR: Break point cluster region; CML: Chronic myeloid leukemia; CP: Chronic phase; PCR: Polymerase chain reaction; Ph: Philadelphia chromosome; TKI: Tyrosine kinase inhibitor

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