TY - JOUR
T1 - Translocation (8;17;15;21)(q22;q23;q15;q22) in acute myeloid leukemia (M2)
T2 - A four-way variant of t(8;21)
AU - Vieira, Luís
AU - Oliveira, Vanessa
AU - Ambrósio, Ana P.
AU - Marques, Bárbara
AU - Pereira, Ana M.
AU - Hagemeijer, Anne
AU - Boavida, M. G.
PY - 2001/7/15
Y1 - 2001/7/15
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0035878575&partnerID=8YFLogxK
U2 - 10.1016/S0165-4608(01)00404-6
DO - 10.1016/S0165-4608(01)00404-6
M3 - Article
C2 - 11463447
AN - SCOPUS:0035878575
SN - 0165-4608
VL - 128
SP - 104
EP - 107
JO - Cancer Genetics And Cytogenetics
JF - Cancer Genetics And Cytogenetics
IS - 2
ER -
