Przybylski G, Oettle H, Ludwig W D, Siegert W, Schmidt C A
Innere Medizin, Abt. Hämatolgoie, Klinikum Rudolf Virchow, Freie Universität, Berlin, Germany.
Br J Haematol. 1994 Jun;87(2):301-7. doi: 10.1111/j.1365-2141.1994.tb04913.x.
Recently, we and others have shown the occurrence of TCR delta gene rearrangements in acute myeloid leukaemia (AML). In this study we describe the molecular characteristics of these rearrangements by the polymerase chain reaction (PCR) and the direct sequencing of PCR products. 11 rearrangements were characterized in blast cell samples from six patients. We found a heterogenous pattern of TCR delta gene rearrangements with involvement of V delta 1-5 regions. These findings differ from observations in T-ALL and B-cell precursor ALL, where predominantly usage of V delta 1 and V delta 2 regions has been described. Furthermore, extensive diversity of junctional sites was observed, including addition of up to 37 N nucleotides, nucleotide deletions at junction sites of V delta and J delta segments and usage of up to three D delta segments. The D delta 3 fragment was the most frequently used diversity element and was found in 10 rearrangements. Nine of the 11 rearrangements were non-functional, either incomplete or out of the reading frame. Therefore a functional TCR delta cannot be expressed in these myeloid blast cells.
最近，我们和其他研究人员发现急性髓系白血病（AML）中存在TCRδ基因重排。在本研究中，我们通过聚合酶链反应（PCR）和PCR产物直接测序来描述这些重排的分子特征。对6例患者的原始细胞样本中的11种重排进行了特征分析。我们发现TCRδ基因重排模式具有异质性，涉及Vδ1-5区域。这些发现与T-ALL和B细胞前体ALL中的观察结果不同，在T-ALL和B细胞前体ALL中主要描述的是Vδ1和Vδ2区域的使用情况。此外，观察到连接位点存在广泛的多样性，包括添加多达37个N核苷酸、Vδ和Jδ片段连接位点处的核苷酸缺失以及使用多达三个Dδ片段。Dδ3片段是最常用的多样性元件，在10种重排中被发现。11种重排中有9种是非功能性的，要么不完整，要么超出阅读框。因此，在这些髓系原始细胞中无法表达功能性TCRδ。
