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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
Author(s) -
Przybylski Grzegorz K.,
Dittmann Kathleen,
Grabarczyk Piotr,
Dölken Gottfried,
Gesk Stefan,
Harder Lana,
Landmann Eva,
Siebert Reiner,
Schmidt Christian A.
Publication year - 2010
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2010.01508.x
Subject(s) - chromosomal translocation , biology , microbiology and biotechnology , breakpoint , enhancer , gene , comparative genomic hybridization , genetics , gene rearrangement , cancer research , gene duplication , gene expression , chromosome
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.