title: Molecular characterization of a novel chromosomal translocation t(12;14)(q23;q11.2) in T-lymphoblastic lymphoma between the T-cell receptor delta-deleting elements (TRDREC and TRAJ61) and the hypothetical gene C12orf42.
abstract: Chromosomal aberrations have diagnostic, prognostic, and therapeutic relevance in hematologic malignancies. By combining fine-tiling comparative genomic hybridization (FT-CGH) and ligation-mediated PCR (LM-PCR), we established a fast, robust approach to precisely characterize chromosomal breakpoints. Using this approach, we clarified at the molecular level novel chromosomal translocation t(12;14)(q23;q11.2) in T-lymphoblastic lymphoma. The translocation occurred during the deletional rearrangement of the T-cell receptor delta gene (TRD), which is a pivotal step in T cell differentiation toward the alpha/beta vs. the gamma/delta lineage. We found that this rearrangement disrupted the hypothetical gene C12orf42 and brought the Achaete-scute complex homolog 1 gene into proximity of the TRA enhancer, which encodes a member of the basic helix-loop-helix family of transcription factors and is overexpressed in thyroid and lung cancers.
authors.affiliation: Klinik für Innere Medizin C, Universität Greifswald, Germany. przybylg@man.poznan.pl
authors.forename: Grzegorz K
authors.initials: GK
authors.lastname: Przybylski
authors.forename: Kathleen
authors.initials: K
authors.lastname: Dittmann
authors.forename: Piotr
authors.initials: P
authors.lastname: Grabarczyk
authors.forename: Gottfried
authors.initials: G
authors.lastname: Dölken
authors.forename: Stefan
authors.initials: S
authors.lastname: Gesk
authors.forename: Lana
authors.initials: L
authors.lastname: Harder
authors.forename: Eva
authors.initials: E
authors.lastname: Landmann
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
authors.forename: Christian A
authors.initials: CA
authors.lastname: Schmidt
mesh_terms: D056905:Chromosome Breakpoints; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D015329:Gene Rearrangement, T-Lymphocyte; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics; D008722:Methods; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D016692:Receptors, Antigen, T-Cell, gamma-delta / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D016692:Receptors, Antigen, T-Cell, gamma-delta; D014157:Transcription Factors