Other
https://doi.org/10.21860/medflum2018_192892
Complex variant of Philadelphia translocation involving chromosomes 1, 9, 12 and 22 in a case with chronic myeloid leukemia (CML)
Željka Tkalčić Švabek
; University Hospital Centre Zagreb, Clinical Department of Laboratory Diagnostics, Divison for Cytogenetics, Zagreb, Croatia
Marina Josipović
; General Hospital „Dr. Josip Benčević“, Department of Laboratory Diagnostics, Slavonski Brod, Croatia
Ivana Franić Šimić
; University Hospital Centre Zagreb, Clinical Department of Laboratory Diagnostics, Divison for Cytogenetics, Zagreb, Croatia
Sanja Davidović-Mrsić
; University Hospital Centre Zagreb, Clinical Department of Laboratory Diagnostics, Divison for Cytogenetics, Zagreb, Croatia
Nadira Duraković
; University Hospital Centre Zagreb, Division of Hematology, Zagreb, Croatia
Abstract
Aim: Chronic myeloid leukemia (CML) is characterized by the Philadelphia (Ph) chromosome created by the reciprocal translocation t(9;22)(q34;q11), resulting in the hybrid gene breakpoint cluster region - Abelson (BCR-ABL1). Around 5–10% of CML cases develop complex variant Ph translocations involving one or more chromosomal regions besides 9 and 22. We report in this study a case of acute lymphoblastic leukemia (ALL) developed from CML displaying a novel four-way translocation.
Case report: Complete blood analysis of 46-year-old male patient showed an increase in white blood cells, lower levels of red blood cells and platelets. Bone-marrow sample was subjected to conventional cytogenetic (Giemsa-banding) and fluorescence in situ hybridization methods and four - way translocation was identified. Considering hepatosplenomegaly and breakpoint cluster region that was characterized as major (M-bcr) on quantitative real-time polymerase chain reaction (RQ-PCR), ALL was diagnosed as a transformation from CML.
Conclusion: This study reports new four-way translocation ins(22;1)(q11.2;q31q32)t(1;9;12;22)(q32;q34;q13;q11.2) in an ALL patient developed from the CML and was cross-checked in Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer.
Keywords
bone marrow; chronic myelogenous leukemia; cytogenetics; Philadelphia chromosome
Hrčak ID:
192892
URI
Publication date:
1.3.2018.
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