title: ETV6-ARNT fusion in a patient with childhood T lymphoblastic leukemia.
abstract: The ETS variant gene 6 (ETV6) gene is located at 12p13, and is frequently involved in translocations in various human neoplasms, resulting in the expression of fusion proteins consisting of the amino-terminal part of ETV6 and unrelated transcription factors or protein tyrosine kinases. Leukemia with t(1;12)(q21;p13) was previously described in a 5-year-old boy with acute myeloblastic leukemia (AML-M2) who exhibited a novel ETV6-aryl hydrocarbon receptor nuclear translocator (ARNT) fusion protein. We herein report the case of a 2-year-old boy with T-cell lymphoblastic leukemia (T-ALL) harboring t(1;12)(q21;p13). Fluorescence in situ hybridization (FISH) with a ETV6 dual-color DNA probe revealed that the split signals of the ETV6 gene in 96.7% of bone marrow cells, indicating rearrangement of the ETV6 gene. Therefore, we performed a FISH analysis with bacterial artificial chromosome (BAC) probes containing the ARNT, BCL9, and MLLT11 genes located at 1q21, and these results indicated that the ARNT gene might be involved in the t(1;12)(q21;p13). Reverse transcriptase-polymerase chain reaction analysis disclosed the existence of a ETV6-ARNT fusion gene. To our knowledge, the current report is novel in its report of the ETV6-ARNT fusion in childhood T-ALL. The ETV6-ARNT fusion is associated not only with AML but also with T-ALL.
authors.affiliation: Department of Pediatrics, University of Toyama, Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Otsubo
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Mariko
authors.initials: M
authors.lastname: Eguchi
authors.forename: Minenori
authors.initials: M
authors.lastname: Eguchi-Ishimae
authors.forename: Kentaro
authors.initials: K
authors.lastname: Tamura
authors.forename: Keiko
authors.initials: K
authors.lastname: Nomura
authors.forename: Akihiro
authors.initials: A
authors.lastname: Abe
authors.forename: Eiichi
authors.initials: E
authors.lastname: Ishii
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: D056930:ARNTL Transcription Factors / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D056930:ARNTL Transcription Factors; D017931:DNA Primers; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein