PMID- 11463447 OWN - NLM STAT- MEDLINE DCOM- 20010809 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 128 IP - 2 DP - 2001 Jul 15 TI - Translocation (8;17;15;21)(q22;q23;q15;q22) in acute myeloid leukemia (M2). a four-way variant of t(8;21). PG - 104-7 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. FAU - Vieira, L AU - Vieira L AD - Centro de Genetica Humana, Instituto Nacional de Saude Dr. Ricardo Jorge, Av. Padre Cruz, 1649-016, Lisboa, Portugal. luis.vieira@insa.min-saude.pt FAU - Oliveira, V AU - Oliveira V FAU - Ambrosio, A P AU - Ambrosio AP FAU - Marques, B AU - Marques B FAU - Pereira, A M AU - Pereira AM FAU - Hagemeijer, A AU - Hagemeijer A FAU - Boavida, M G AU - Boavida MG LA - eng PT - Case Reports PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (AML1-ETO fusion protein, human) RN - 0 (Core Binding Factor Alpha 2 Subunit) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (RUNX1 Translocation Partner 1 Protein) RN - 0 (Transcription Factors) SB - IM MH - Adolescent MH - Chromosomes, Human, Pair 15/genetics MH - Chromosomes, Human, Pair 21/*genetics MH - Chromosomes, Human, Pair 7/genetics MH - Chromosomes, Human, Pair 8/*genetics MH - Core Binding Factor Alpha 2 Subunit MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Myeloid, Acute/*genetics MH - Male MH - Oncogene Proteins, Fusion/genetics MH - RUNX1 Translocation Partner 1 Protein MH - Transcription Factors/genetics MH - Translocation, Genetic/*genetics EDAT- 2001/07/21 10:00 MHDA- 2001/08/10 10:01 CRDT- 2001/07/21 10:00 PHST- 2001/07/21 10:00 [pubmed] PHST- 2001/08/10 10:01 [medline] PHST- 2001/07/21 10:00 [entrez] AID - S0165460801004046 [pii] AID - 10.1016/s0165-4608(01)00404-6 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2001 Jul 15;128(2):104-7. doi: 10.1016/s0165-4608(01)00404-6.