title: B lymphoblastic leukemia with ETV6 amplification.
abstract: We present a case of acute lymphoblastic leukemia caused by ETV6 amplification. Although the cytogenetic result revealed complex karyotype, multicolor fluorescence in situ hybridization and high-resolution multicolor banding supported amplification of a gene on 12p13. Fluorescence in situ hybridization with ETV6 probe confirmed the amplification. ETV6 generally plays as tumor-suppressor gene in leukemia. Their expression is decreased or missed by deletion or mutation. Otherwise, ETV6 protein overexpression was verified in this case by immunohistochemistry. Any translocation or mutation involving ETV6 was not detected. This experience strongly supports the hypothesis that the amplification of ETV6 is a possible mechanism of leukeogenesis as oncogene.
authors.affiliation: Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Korea.
authors.forename: Hyojin
authors.initials: H
authors.lastname: Chae
authors.forename: Myungshin
authors.initials: M
authors.lastname: Kim
authors.forename: Jihyang
authors.initials: J
authors.lastname: Lim
authors.forename: Yonggoo
authors.initials: Y
authors.lastname: Kim
authors.forename: Kyungja
authors.initials: K
authors.lastname: Han
authors.forename: Seok
authors.initials: S
authors.lastname: Lee
mesh_terms: D001402:B-Lymphocytes / Q000166:cytology*; D002872:Chromosome Deletion; D003582:Cytogenetics; D017353:Gene Deletion; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009154:Mutation; D009857:Oncogenes; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein