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Insertions generating the 5′ RUNX1 /3′ CBFA2T1 gene in acute myeloid leukemia cases show variable breakpoints
Author(s) -
Specchia Giorgina,
Albano Francesco,
Anelli Luisa,
Zagaria Antonella,
Liso Arcangelo,
Starza Roberta La,
Mancini Marco,
Sebastio Lucia,
Giugliano Emilia,
Saglio Giuseppe,
Liso Vincenzo,
Rocchi Mariano
Publication year - 2004
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.20061
Subject(s) - breakpoint , runx1 , myeloid leukemia , chromosomal translocation , fusion gene , derivative chromosome , biology , genetics , chromosome , insertion , microbiology and biotechnology , gene , chromosome 22 , cancer research , mutation , transcription factor
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. © 2004 Wiley‐Liss, Inc.