Delabesse E, Burtin M L, Millien C, Madonik A, Arnulf B, Beldjord K, Valensi F, Macintyre E A
Biological Hematology, Hôpital Necker-Enfants Malades and Université Paris V, France.
Leukemia. 2000 Jun;14(6):1143-52. doi: 10.1038/sj.leu.2401750.
Detection of clonal T cell receptor gamma (TCRG) gene rearrangements by PCR is widely used in both the diagnostic assessment of lymphoproliferative disorders and the follow-up of acute lymphoblastic leukaemia (ALL), when residual positivity in excess of 10(-3) at morphological complete remission is increasingly recognised to be an independent marker of poor prognosis. This is largely based on specific detection of V-J rearrangements from childhood cases. We describe rapid, multifluorescent Vgamma and Jgamma PCR typing of multiplex amplified diagnostic samples, as applied to 46 T-ALL. These strategies allow selected analysis of appropriate cases, immediate identification of Vgamma and Jgamma segments in over 95% of alleles, improved resolution and precision sizing and a sensitivity of detection at the 10(-2)-10(-3) level. We demonstrate preferential V-J combinations but no difference in V-J usage between children and adults, nor between SIL-TAL1-negative and -positive cases. A combination of fluorescent multiplex and Vgamma-Jgamma-specific monoplex follow-up, as described here, will allow detection of both significant clonal evolution and of the diagnostic clone at a level of prognostic significance, by techniques which can readily be applied to large-scale prospective studies for which real-time analysis is required.
通过聚合酶链反应(PCR)检测克隆性T细胞受体γ(TCRG)基因重排广泛应用于淋巴增殖性疾病的诊断评估以及急性淋巴细胞白血病(ALL)的随访,当形态学完全缓解时残留阳性率超过10⁻³越来越被认为是预后不良的独立标志物。这在很大程度上基于对儿童病例V-J重排的特异性检测。我们描述了对46例T-ALL诊断样本进行多重扩增后的快速、多荧光Vγ和Jγ PCR分型。这些策略允许对合适的病例进行选择性分析,在超过95%的等位基因中立即鉴定Vγ和Jγ片段,提高分辨率和精确大小测定,检测灵敏度达到10⁻²-10⁻³水平。我们证明了存在优先的V-J组合,但儿童与成人之间、SIL-TAL1阴性和阳性病例之间在V-J使用上没有差异。本文所述的荧光多重和Vγ-Jγ特异性单重随访相结合,将能够通过可轻松应用于需要实时分析的大规模前瞻性研究的技术,检测到具有预后意义水平的显著克隆进化和诊断克隆。