Januszkiewicz D A, Nowak J S
Institute of Human Genetics, Polish Academy of Sciences, Poznań.
Ann Hematol. 1994 Sep;69(3):107-10. doi: 10.1007/BF01695689.
DNA-based PCR with various sets of primers for TCR gamma/delta, and Ig heavy chain (IgH) genes were used to study clonality in childhood B-lineage acute lymphoblastic leukemia. Amplification of the IgH CDR-III was observed in 75 of 120 analyzed cases (62.5%). From all analyzed groups, the IgH gene rearrangement was most often observed in pre-B ALL (85.7%) and was rather rare in null-ALL (34.5%). TCR delta gene rearrangement was the most common, and was observed in 77 patients (64.2%). The typical pattern of rearrangements was defined as an incomplete V delta 2 to D delta 3, V delta 2 to D delta 2, or D delta 3 to D delta 2 recombination product. Rearrangements of TCR gamma gene we observed in 61 cases (50.8%). TCR gamma gene rearrangements were detected predominantly in null-ALL and early B-ALL (55.2% and 60%, respectively) and were rather rare in other groups. Of all eight V segments of V gamma I group, the most frequent gene usage concerns regions V gamma 2, V gamma 4, and psi V gamma 7. We have confirmed that IgH gene amplification, together with TCR gamma and delta gene amplification, provides a rapid, sensitive approach to assessing clonality in ALL almost in 100% of cases.
采用基于DNA的聚合酶链反应(PCR)以及针对TCRγ/δ和Ig重链(IgH)基因的多组引物,来研究儿童B系急性淋巴细胞白血病的克隆性。在120例分析病例中的75例(62.5%)观察到IgH CDR-III的扩增。在所有分析组中,IgH基因重排在前B细胞急性淋巴细胞白血病(pre-B ALL)中最常观察到(85.7%),而在无丙种球蛋白血症性急性淋巴细胞白血病(null-ALL)中相当罕见(34.5%)。TCRδ基因重排最为常见,在77例患者中观察到(64.2%)。重排的典型模式定义为不完全的Vδ2至Dδ3、Vδ2至Dδ2或Dδ3至Dδ2重组产物。在61例(50.8%)中观察到TCRγ基因重排。TCRγ基因重排主要在null-ALL和早期B细胞急性淋巴细胞白血病(early B-ALL)中检测到(分别为55.2%和60%),而在其他组中相当罕见。在VγI组的所有八个V区段中,最常使用的基因涉及Vγ2、Vγ4和ψVγ7区域。我们已经证实,IgH基因扩增以及TCRγ和δ基因扩增,几乎在100%的病例中为评估急性淋巴细胞白血病的克隆性提供了一种快速、灵敏的方法。