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Wiley, European Journal of Haematology, 5(85), p. 452-456, 2010

DOI: 10.1111/j.1600-0609.2010.01508.x

American Society of Hematology, Blood, 22(114), p. 4239-4239, 2009

DOI: 10.1182/blood.v114.22.4239.4239

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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.

This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

Abstract Abstract 4239 Chromosomal aberrations have diagnostic, prognostic and therapeutic consequences in haematological malignancies. By combining fine-tiling comparative genomic hybridization (FT-CGH) and ligation-mediated PCR (LM-PCR) we established a fast and robust approach to precisely characterize chromosomal breakpoints. Using this approach we characterized at the molecular level novel chromosomal translocation t(12;14)(q23;q11.2) in T-lymphoblastic lymphoma occurring during the deletional rearrangement of the T cell receptor delta gene (TRD). Normally, this transient rearrangement is a pivotal step in T cell differentiation towards the alpha/beta versus the gamma/delta lineage and generates the T cell receptor excision circles (TREC), which are quantitated to determine the proliferative history of T cells. We found that the rearrangement disrupted the hypothetical gene C12orf42 and brought the Achaete-scute complex homolog 1 (ASCL1) gene into proximity to the TRA enhancer, which is encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors and is overexpressed in medullary thyroid cancer and small cell lung cancer. Disclosures: No relevant conflicts of interest to declare.