Complex translocation (8;12;21): a new variant of t(8;21) in acute myeloid leukemia.
Variants of the t(8;21)(q22;q22) involving chromosomes 8, 21, and other chromosomes account for approximately 3% of all t(8;21)(q22;q22) in acute myeloid leukemia (AML) patients. In this paper, we report a case of AML-M2 with a t(8;12;21)(q22;p12 approximately p13;q22) associated with chromosomal abnormalities, including loss of the Y chromosome and trisomy 8q22 approximately qter. Using a dual-color fluorescence in situ hybridization (FISH) analysis with ETO and AML1 probes, we demonstrated an ETO/AML1 fusion signal on the derivative chromosome 8. Using whole painting probes for chromosomes 8 and 12, we demonstrated a three-way translocation, t(8;12;21)(q22;p12 approximately p13;q22). Reverse transcription polymerase chain reaction (RT-PCR) analysis showed the presence of AML1/ETO fusion transcript. The present case highlights the importance of the combination of approaches, i.e., standard karyotyping, FISH, and RT-PCR, for the detection of variants of t(8;21)(q22;q22), shedding light on region 8q22 approximately qter which could harbor potential genes responsible for leukemogenesis.
Farra
C
C
Research Genetic Laboratory, Chronic Care Center, Research Genetic Laboratory, Hazmieh, Lebanon. ccgenlab@dm.net.lb
Awwad
J
J
Valent
A
A
Lozach
F
F
Bernheim
A
A
D000328:Adult; D017668:Age of Onset; D001853:Bone Marrow / Q000473:pathology; D002881:Chromosomes, Human, Pair 12; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D018388:Codon, Terminator; D050676:Core Binding Factor Alpha 2 Subunit; D015342:DNA Probes; D004587:Electrophoresis, Agar Gel; D014644:Genetic Variation; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D000075142:RUNX1 Translocation Partner 1 Protein; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics
C107844:AML1-ETO fusion protein, human; D018388:Codon, Terminator; D050676:Core Binding Factor Alpha 2 Subunit; D015342:DNA Probes; D015514:Oncogene Proteins, Fusion; D000075142:RUNX1 Translocation Partner 1 Protein; D014157:Transcription Factors