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

作者：Przybylski Grzegorz K^*; Dittmann Kathleen; Grabarczyk Piotr; Doelken Gottfried; Gesk Stefan; Harder Lana; Landmann Eva; Siebert Reiner; Schmidt Christian A

来源：European Journal of Haematology, 2010, 85(5): 452-456.

DOI：10.1111/j.1600-0609.2010.01508.x

• fine-tiling comparative genomic hybridization
• ligation-mediated PCR
• T-cell receptor alpha
• delta locus
• rearrangement
• translocation
• t(12
• 14)(q23
• q11
• 2)

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.

• 出版日期2010-11