Abstract
Chronic myeloid leukemia (CML) is genetically characterized by the presence of the reciprocal translocation t(9;22) with the formation of Philadelphia (Ph) chromosome. Sometimes, the Ph translocation is generated by variant rearrangements. The prognostic impact of the variant translocations is still controversial. Among the 180 patients with Ph-positive CML who were treated in Hacettepe University Faculty of Medicine Division of Hematology, variant translocations were detected, and retrospectively clinical and prognostic features were described. Also we performed a comprehensive literature review on the prognosis of such variant cases before and after tyrosine kinase inhibitor era. Five patients (2.7%) had variant Ph chromosomes, involved in the rearrangements were chromosomes 2 (2 cases), 11, 14 and 15. Patients were treated with imatinib or dasatinib. All patients reached a stable major molecular response suggesting a prognosis not worse than standard translocation individuals. Our present data were compatible with the data of previous studies indicating no difference in the prognosis between standard and variant translocations in tyrosine kinase inhibitors era of CML.
Highlights
Chronic myeloid leukemia (CML) is a proliferative disorder of hematopoietic pluripotent stem cells [1]
Our present data were compatible with the data of previous studies indicating no difference in the prognosis between standard and variant translocations in tyrosine kinase inhibitors era of CML
Cytogenetic, and molecular responses to tyrosine kinase inhibitor (TKI) were rated according to the European Leukemia Net (ELN) 2013 guidelines [7]
Summary
Chronic myeloid leukemia (CML) is a proliferative disorder of hematopoietic pluripotent stem cells [1]. It presents with an estimated incidence of 1/100,000 cases per year, which accounts for 15%-20% of all leukemia cases [2]. CML is genetically characterized by the presence of the reciprocal translocation t(9;22) with the formation of the Philadelphia (Ph) chromosome [3]. The Ph chromosome is detected in around 90% of CML patients, among whom 5%-10% may have variant types [5]. Variant Ph chromosomes can present a simple form (involving 22q11 and one additional breakpoint) or a complex form (involving 22q11, 9q34, and at least one additional breakpoint) [6]
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