title: An unusual three-way translocation t(21;8;1)(q22;q22;q32) in a case of acute myeloid leukemia (M2).
abstract: Variant forms of the classic translocation t(8;21) are uncommon and account approximately 3% of all t(8;21)(q22;q22) in acute myeloid leukemia (AML) patients. These forms involve chromosomes 8, 21, and other chromosomes. Here we report a Tunisian patient with a complex rearrangement t(21;8;1)(q22;q22;q32) revealed by conventional chromosomal study at diagnosis. Fluorescence in situ hybridization study revealed the presence of the AML1-ETO chimeric gene on the derivative chromosome 8. To the best of our knowledge, this is the second case of t(21;8;1) of AML-M2 reported in the literature with the involvement of the same breakpoint at 1q32. This illustrates that this complex translocation is rarely encountered in AML and reinforces the fact that this region may harbour a critical gene candidate that may play an important role in the pathogenesis of AML. More cases are needed to elucidate its clinical features and prognosis.
authors.affiliation: Laboratoire de cytogénétique et de biologie de la reproduction, CHU Farhat Hached, Sousse, Tunisie. gmidene_abir@yahoo.fr
authors.forename: Abir
authors.initials: A
authors.lastname: Gmidène
authors.forename: Hlima
authors.initials: H
authors.lastname: Sennana
authors.forename: Rim
authors.initials: R
authors.lastname: Frikha
authors.forename: Moez
authors.initials: M
authors.lastname: Elloumi
authors.forename: Hatem
authors.initials: H
authors.lastname: Belaaj
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
mesh_terms: D000328:Adult; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D020732:Cytogenetic Analysis; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics