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
Apr 1, 1995·Human Immunology
Jan 22, 1998·Leukemia·A HagemeijerN Sacchi
Jan 14, 1999·Genes, Chromosomes & Cancer·S TaviauxM Lafage-Pochitaloff
Aug 5, 1999·Cancer Genetics and Cytogenetics·C J HarrisonE Macintyre
Nov 30, 1999·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·J C ByrdC D Bloomfield
Dec 22, 1999·Leukemia·J J van DongenA Biondi
May 16, 2000·Genome Research·Y JiR D Nicholls
Nov 20, 2001·Nucleic Acids Research·S KurtzR Giegerich
Mar 14, 2002·Cancer Genetics and Cytogenetics·M UriosteJ Benítez
May 3, 2002·Leukemia·David Grimwade
Jul 13, 2002·Proceedings of the National Academy of Sciences of the United States of America·Giuseppe SaglioMariano Rocchi
Jan 31, 2003·Genes, Chromosomes & Cancer·Ulrike GamerdingerJochen Harbott
Nov 19, 2003·Cancer Genetics and Cytogenetics·Masahiro OnozawaIsao Maekawa
Citations
Nov 20, 2004·Annals of Hematology·L AnelliG Specchia
Dec 23, 2010·Future Oncology·Etienne De BraekeleerMarc De Braekeleer
May 16, 2013·Leukemia & Lymphoma·Jae-Hee LeeJung-Sook Ha
Jun 5, 2012·Leukemia Research·Katsuya YamamotoHironobu Minami
Jan 15, 2011·Pathology·K F Wong, Lisa L P Siu
Jan 27, 2009·Cancer Genetics and Cytogenetics·Seyed A MoosaviAdewale Adeyinka
Oct 23, 2010·Genes, Chromosomes & Cancer·Frank G RückerKonstanze Döhner
Oct 10, 2014·Molecular Cytogenetics·Antonella ZagariaFrancesco Albano
Jun 2, 2011·Journal of Biomedicine & Biotechnology·Håkon ReikvamØystein Bruserud
Dec 6, 2007·Journal of Korean Medical Science·Ki Tae HwangDong Young Noh
Sep 17, 2016·Diagnostic Pathology·Ariz AkhterAdnan Mansoor
Nov 2, 2007·Leukemia·G R JalaliM Martineau
Feb 2, 2019·Genes, Chromosomes & Cancer·Prabakaran PaulrajBo Hong
Aug 9, 2018·Scientific Reports·Paola OrsiniFrancesco Albano
Aug 3, 2018·Journal of Immunology Research·Mario DeliaGiorgina Specchia