Complex cytogenetic abnormalities in chronic myeloid leukemia resulting in early progression to blast crisis: a case rep
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(2020) 14:231
CASE REPORT
Open Access
Complex cytogenetic abnormalities in chronic myeloid leukemia resulting in early progression to blast crisis: a case report Haider Ali Malakzai1, Soma Rahmani1, Ahmed Maseh Haidary1*, Sarah Noor2, Maryam Ahmad1, Abdul Sami Ibrahimkhil1 and Samuel Sharif1
Abstract Introduction: BCR-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 presentation: We 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. Conclusion: Cytogenetic 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. Keywords: CML, Complex cytogenetic abnormalities, Early progression, Nonresponsive to therapy
Introduction BCR-ABL1, the oncogenic driver of chronic myeloid leukemia (CML), results from a balanced translocation, t(9;22)(q34;q11.2), involving a fusion of the Abelson gene (ABL) from chromosome 9q34 with the breakpoint cluster region (BCR) gene on chromosome 22q11.2 [1]. This fusion gene is the main molecular target in the management of CML, and, since its first introduction in early 2000s, tyrosine kinase inhibitor (TKI) therapy has been very effective in improving outcome and prognosis * Correspondence: [email protected] 1 Department of Pathology and Laboratory Medicine, French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan Full list of author information is available at the end of the article
in affected patients [2]. The first agent with TKI activity that acquired license for treatment of patients with CML was imatinib [3]. Then the new-generation drugs were added, including nilotinib, dasatinib, and ponatinib [4]. The current therapeutic protocols are all based on cytogenetic and molecular genetic predictors of disease [1, 5]. For instance, the first tool to identify patient response with a great level of confidence was quantitative polymerase chain reaction (PCR) for BCR-ABL1, aiming to assess patients for major molecular response, which was the deepest scrutiny into a disease process for its time [6]. Since then, scrutiny of the disease process has grown deeper and deeper, with
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