Simple variant t(8;21) acute myeloid leukemias harbor insertions of the AML1 or ETO genes
✍ Scribed by Sylvie Taviaux; Véronique Brunel; Madeleine Dupont; Francisca Fernandez; Concepcion Ferraz; Nadine Carbuccia; Danielle Sainty; Jacques Demaille; Françoise Birg; Marina Lafage-Pochitaloff
- Book ID
- 102656553
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 576 KB
- Volume
- 24
- Category
- Article
- ISSN
- 1045-2257
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✦ Synopsis
We report on the molecular characterization of two acute myeloid leukemias (AML), one AML-M1 (patient 1) and one AML-M2 (patient 2) with t(8;21)(p21;q22) and t(8;20)(q22;p13), respectively, at diagnosis. The locations of the breakpoints, 21q22 in patient 1 and 8q22 in patient 2, prompted us to search for a cryptic t(8;21)(q22;q22) and involvement of the AML1 and ETO genes. Dual-color fluorescence in situ hybridization (FISH) using whole chromosome painting probes for chromosomes 8, 20, and 21 confirmed the conventional cytogenetic karyotypes. However, dual-color FISH using appropriate ETO and AML1 probes disclosed an insertion of AML1 into 8q22 on the derivative chromosome 8 in patient 1 and of ETO into 21q22 on one chromosome 21 in patient 2, leading to AML1-ETO fusion signals. Both cases expressed an AML1-ETO transcript, shown by reverse transcriptase polymerase chain reaction and cDNA sequencing. Creation of functional AML1-ETO fusion genes in these two simple variant t(8;21) probably occurred through complex mechanisms, combining translocation and insertion of chromosomal segments.