Naslov
Complex variant of Philadelphia translocation involving chromosomes 1, 9, 12 and 22 in a case with chronic myeloid leukemia (CML).

Autori
Tkalčić Švabek, Željka ; Josipović, Marina ; Franić Šimić, Ivana ; Davidović-Mrsić, Sanja ; Duraković, Nadira

Izvornik
Medicina Fluminensis (1847-6864) 54 (2018), 1; 91-97

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, prikaz, stručni

Ključne riječi
bone marrow ; chronic myelogenous leukemia ; cytogenetics ; Philadelphia chromosome

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA