PMID- 9365838 OWN - NLM STAT- MEDLINE DCOM- 19980108 LR - 20231213 IS - 1045-2257 (Print) IS - 1045-2257 (Linking) VI - 20 IP - 3 DP - 1997 Nov TI - BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion. PG - 299-304 AB - A BCR/ABL-negative chronic myeloid leukemia (CML) with t(12;14) (p12;q11-13) as the sole chromosomal abnormality was investigated by fluorescence in situ hybridization (FISH), which disclosed a cryptic insertion of ETV6 (previously called TEL), located at 12p12, into ABL at chromosome band 9q34. ETV6/ABL fusion was confirmed by RT-PCR, revealing that the first five exons of ETV6 were fused in frame with ABL at exon 2. Wild-type ETV6 was expressed, in accordance with the FISH results showing no deletion of the second ETV6 allele. ETV6/ABL chimeric transcripts have previously been reported in acute leukemias, but never before in CML. The present case suggests that ETV6/ABL positivity may constitute a new genetic subgroup of BCR-negative CML. FAU - Andreasson, P AU - Andreasson P AD - Department of Clinical Genetics, Lund University Hospital, Sweden. FAU - Johansson, B AU - Johansson B FAU - Carlsson, M AU - Carlsson M FAU - Jarlsfelt, I AU - Jarlsfelt I FAU - Fioretos, T AU - Fioretos T FAU - Mitelman, F AU - Mitelman F FAU - Hoglund, M AU - Hoglund M LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 RN - 0 (DNA, Neoplasm) RN - 0 (DNA-Binding Proteins) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (Proto-Oncogene Proteins c-ets) RN - 0 (Repressor Proteins) RN - 0 (Transcription Factors) RN - EC 2.7.10.2 (Fusion Proteins, bcr-abl) SB - IM MH - Adult MH - Blotting, Southern MH - Bone Marrow Cells/chemistry MH - Chromosome Banding MH - Chromosome Mapping MH - Chromosomes, Human, Pair 12/genetics MH - Chromosomes, Human, Pair 14/genetics MH - DNA, Neoplasm/isolation & purification MH - DNA-Binding Proteins/*genetics MH - Fusion Proteins, bcr-abl/genetics MH - Genes, abl/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*genetics MH - Male MH - Oncogene Proteins, Fusion/*genetics MH - Polymerase Chain Reaction MH - Proto-Oncogene Proteins c-ets MH - *Repressor Proteins MH - Transcription Factors/*genetics MH - Translocation, Genetic/genetics MH - ETS Translocation Variant 6 Protein EDAT- 1997/11/20 07:04 MHDA- 2000/06/20 09:00 CRDT- 1997/11/20 07:04 PHST- 1997/11/20 07:04 [pubmed] PHST- 2000/06/20 09:00 [medline] PHST- 1997/11/20 07:04 [entrez] AID - 10.1002/(SICI)1098-2264(199711)20:3<299::AID-GCC11>3.0.CO;2-K [pii] PST - ppublish SO - Genes Chromosomes Cancer. 1997 Nov;20(3):299-304.