Three-way Complex Variant Translocation Involving Long Arm of Chromosome 1 in a Chronic Myeloid Leukemia Patient

Abstract

Clinical presentation of chronic myeloid leukemia (CML) with classic translocation is similar to those with variant translocations. However, the disease course, outcome and prognosis differs to a large extent. Therefore, it is important to identify and report variant cytogenetic findings. The case is being reported to improve awareness regarding such cases. Case Presentation: Herein we present a case study of 55-year-old male who presented with abdominal pain and fever. The initial complete blood count showed hyperleukocytosis with features suggestive of chronic myeloproliferative leukemia (CML). Bone marrow biopsy and cytogenetic studies were performed for confirmation. Cytogenetic analysis showed presence of complex, three-way (1;9;22)(q12;q34;q11.2) translocation involving chromosomes 1, 9 and 22. The Fluorescence in situ hybridization (FISH) studies further confirmed BCR-ABL fusion gene and its atypical pattern was in concordance with aberrations observed in karyotype. The variant translocation we reported herein is unique and rarely reported in literature. Discussion: We presented a complex variant case of three-way translocation with characteristic hematological and immunophenotypic findings of CML in chronic phase. To the best of our knowledge, only few cases have been documented so far involving such complex translocation. The initial response to cytoreduction was encouraging while imatinib response has to be followed in present case. Conclusion: It is important to highlight the variant translocations since such findings may influence the disease course hence play a significant role to predict outcome.