title: Chromosome abnormalities of the short arm of chromosome 12 in hematopoietic malignancies: a report including three novel translocations involving the TEL/ETV6 gene.
abstract: A wide variety of abnormalities of the short arm of chromosome 12 has been reported in hematologic malignancies. The most frequent rearrangements result from t(12;21)(p13;q22) of childhood acute lymphoblastic leukemia, a translocation cryptic when leukemic cells are analyzed with chromosome banding techniques. This translocation results in a fusion of the TEL/ETV6 and AML1 genes. In this report, examples of rearrangements of 12p are presented. Study of two complex chromosome abnormalities associated with t(12;21) emphasizes the importance of using FISH in detection of such translocations. Three novel translocations involving the TEL/ETV6 gene localized on 12p13 are also reported: t(X;12)(q28;p13), t(1;12)(q21;p13), and t(9;12)(p23-24;p13). Finally, the presentation of two translocations with breakpoints located centromeric to TEL/ETV6 highlights the not uncommon involvement of genes other than TEL/ETV6 on 12p.
authors.affiliation: Unité INSERM U 301 and SD 401 No. 301 CNRS, Institut de Génétique Moléculaire, Paris, France.
authors.forename: R
authors.initials: R
authors.lastname: Berger
authors.forename: M
authors.initials: M
authors.lastname: Le Coniat
authors.forename: V
authors.initials: V
authors.lastname: Lacronique
authors.forename: M T
authors.initials: MT
authors.lastname: Daniel
authors.forename: M
authors.initials: M
authors.lastname: Lessard
authors.forename: C
authors.initials: C
authors.lastname: Berthou
authors.forename: P
authors.initials: P
authors.lastname: Marynen
authors.forename: O
authors.initials: O
authors.lastname: Bernard
mesh_terms: D000293:Adolescent; D000754:Anemia, Refractory, with Excess of Blasts / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D002881:Chromosomes, Human, Pair 12; D002899:Chromosomes, Human, Pair 9; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D004268:DNA-Binding Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein