Translocation (8;17;15;21)(q22;q23;q15;q22) in acute myeloid leukemia (M2): A four-way variant of t(8;21)

Luís Vieira, Vanessa Oliveira, Ana P. Ambrósio, Bárbara Marques, Ana M. Pereira, Anne Hagemeijer, M. G. Boavida

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26 Citations (Scopus)


We report the results of cytogenetic, fluorescence in situ hybridization (FISH) and molecular analyses in a 15-year-old boy diagnosed with acute myeloid leukemia subtype M2 (AML-M2). Cytogenetic and FISH analyses, the latter with whole chromosome painting probes, revealed a complex translocation involving four chromosomes: t(8;17;15;21)(q22;q23;q15;q22). The observation of breakpoints at 8q22 and 21q22 suggested a rearrangement of the ETO and AML1 genes, respectively. Using a dual-color FISH test with ETO and AML1 probes, we demonstrated an AML1/ETO fusion signal on the derivative chromosome 8. Reverse transcription-polymerase chain reaction (RT-PCR) analysis showed the presence of AML1/ETO fusion transcripts identical to those found in classical t(8;21). The present case highlights the relevant role of the rearranged chromosome 8, which encodes the AML1/ETO fusion product in the pathogenesis of AML-M2.

Original languageEnglish
Pages (from-to)104-107
Number of pages4
JournalCancer Genetics And Cytogenetics
Issue number2
Publication statusPublished - 15 Jul 2001


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