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
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
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DOI：
10.1111/j.1600-0609.2010.01508.x
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发表时间：
2010-11-01
影响因子：
3.1
通讯作者：
Schmidt, Christian A.
中科院分区：
文献类型：
--
作者：
Przybylski, Grzegorz K.;Dittmann, Kathleen;Schmidt, Christian A.
染色体畸变在恶性血液病的诊断、预后和治疗中具有重要意义。通过结合精细拼接比较基因组杂交（FT-CGH）和连接介导的PCR（LM-PCR），我们建立了一种快速，可靠的方法来精确表征染色体断裂点。使用这种方法，我们澄清了在分子水平上新的染色体易位t（12;14）（q23;q11.2）的T淋巴母细胞淋巴瘤。易位发生在T细胞受体δ基因（TRD）的缺失重排期间，这是T细胞向α/β与γ/δ谱系分化的关键步骤。我们发现这种重排破坏了假设的基因C12 orf 42，并将Achaete-scute复合物同源物1基因带到TRA增强子附近，TRA增强子编码基本螺旋-环-螺旋转录因子家族的成员，并在甲状腺癌和肺癌中过表达。
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.