Insertions generating the 5'RUNX1/3'CBFA2T1 gene in acute myeloid leukemia cases show variable breakpoints

Genes, Chromosomes & Cancer
Giorgina SpecchiaMariano Rocchi

Abstract

Translocation t(8;21)(q22;q22) is a common karyotypic abnormality detected in about 15% of acute myeloid leukemia (AML) cases. The rearrangement results in fusion of the RUNX1 (also known as AML1) and CBFA2T1 (also known as ETO) genes, generating a 5'RUNX1/3'CBFA2T1 transcriptionally active fusion gene on derivative chromosome 8, but some cases with ins(21;8) and ins(8;21) have been observed. However, a detailed breakpoint characterization of the insertion events has never been reported. In the present article, we describe six insertion events among 82 (7.3%) AML cases characterized by the RUNX1/CBFA2T1 fusion. Using FISH experiments with appropriate bacterial artificial chromosome (BAC) and P1 artificial chromosome (PAC) probes, we were able to perform a detailed molecular cytogenetic characterization of one case with ins(8;21) and five with ins(21;8). Our analysis revealed that insertions generating the 5'RUNX1/3'CBFA2T1 gene showed variable breakpoints; the size of the inserted elements ranged from 2.4 to 44 Mb.

References

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Citations

Dec 23, 2010·Future Oncology·Etienne De BraekeleerMarc De Braekeleer
Jan 27, 2009·Cancer Genetics and Cytogenetics·Seyed A MoosaviAdewale Adeyinka
Oct 23, 2010·Genes, Chromosomes & Cancer·Frank G RückerKonstanze Döhner
Jun 2, 2011·Journal of Biomedicine & Biotechnology·Håkon ReikvamØystein Bruserud
Dec 6, 2007·Journal of Korean Medical Science·Ki Tae HwangDong Young Noh
Feb 2, 2019·Genes, Chromosomes & Cancer·Prabakaran PaulrajBo Hong

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