An unusual three-way translocation t(21;8;1)(q22;q22;q32) in a case of acute myeloid leukemia (M2)

Abir Gmidène; Hlima Sennana; Rim Frikha; Moez Elloumi; Hatem Belaaj; Ali Saad

doi:10.1684/abc.2012.0691



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An unusual three-way translocation t(21;8;1)(q22;q22;q32) in a case of acute myeloid leukemia (M2)
Annales de Biologie Clinique. Volume 70, Number 2, 213-6, Mars-Avril 2012, Current practice
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Author(s) : Abir Gmidène, Hlima Sennana, Rim Frikha, Moez Elloumi, Hatem Belaaj, Ali Saad
Summary : 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.
Keywords : AML-M2, t(21 \;8 \;1), conventional karyotype, FISH, AML1/ETO