PMID- 18206543 OWN - NLM STAT- MEDLINE DCOM- 20080324 LR - 20171116 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 180 IP - 2 DP - 2008 Jan 15 TI - Molecular cytogenetic findings in a three-way novel variant of t(1;8;21)(p35;q22;q22): a unique relocation of the AML1/ETO fusion gene 1p35 in AML-M2. PG - 153-7 LID - 10.1016/j.cancergencyto.2007.10.005 [doi] AB - Acute myeloid leukemia (AML) is a malignant neoplasm of hematopoietic stem cells characterized by an abnormal proliferation of myeloid precursors, a reduced rate of apoptosis, and an arrest in cellular differentiation. The present report deals with the results of hematologic, immunophenotypic, cytogenetic, fluorescence in situ hybridization (FISH), and molecular analyses of a 53-year-old female patient diagnosed with AML-M2. Cytogenetic and FISH analysis revealed a complex translocation involving three chromosomes showing t(1;8;21)(p35;q22;q22). The observation of breakpoints at 8q22 and 21q22 suggests a rearrangement of the ETO and AML1 genes, respectively. Using a dual-color FISH test with ETO and AML1 probes, an AML1/ETO fusion signal on the derivative 1p35 instead of der(8) was demonstrated. To the best of our knowledge, this is the first report about the relocation of the AML1/ETO fusion gene to the 1p35 rather than der(8), suggesting the presence of a novel variant of t(8;21)(q22;q22) in the observed patient. FAU - Ahmad, Firoz AU - Ahmad F AD - Research and Development, SRL Ranbaxy Ltd., MIDC, Andheri (E), Mumbai-400093, India. FAU - Kokate, Prajakta AU - Kokate P FAU - Chheda, Pratiksha AU - Chheda P FAU - Dalvi, Rupa AU - Dalvi R FAU - Das, Bibhu Ranjan AU - Das BR FAU - Mandava, Swarna AU - Mandava S 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) SB - IM MH - Base Sequence MH - Chromosome Mapping MH - *Chromosomes, Human, Pair 1 MH - *Chromosomes, Human, Pair 21 MH - *Chromosomes, Human, Pair 8 MH - Core Binding Factor Alpha 2 Subunit/*genetics MH - Cytogenetic Analysis MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Myeloid, Acute/*genetics MH - Middle Aged MH - Oncogene Proteins, Fusion/*genetics MH - RUNX1 Translocation Partner 1 Protein MH - *Translocation, Genetic EDAT- 2008/01/22 09:00 MHDA- 2008/03/25 09:00 CRDT- 2008/01/22 09:00 PHST- 2007/09/10 00:00 [received] PHST- 2007/10/02 00:00 [accepted] PHST- 2008/01/22 09:00 [pubmed] PHST- 2008/03/25 09:00 [medline] PHST- 2008/01/22 09:00 [entrez] AID - S0165-4608(07)00646-2 [pii] AID - 10.1016/j.cancergencyto.2007.10.005 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2008 Jan 15;180(2):153-7. doi: 10.1016/j.cancergencyto.2007.10.005.