Paszek-Vigier M, Talmant P, Méchinaud F, Garand R, Harousseau J L, Bataille R, Avet-Loiseau H
Laboratoire d'Hématologie, Hotel-Dieu, Nantes, France.
Br J Haematol. 1997 Dec;99(3):589-96. doi: 10.1046/j.1365-2141.1997.4243233.x.
Cytogenetics has a strong prognostic value in childhood acute lymphoblastic leukaemia (ALL), but results are often incomplete because of the poor chromosome morphology. To improve this analysis, we tested comparative genomic hybridization (CGH) for the detection of chromosomal imbalances. 72 children were retrospectively analysed using CGH. Only 53% of the patients had been fully banded by standard methods. With CGH, 36 patients retained a normal chromosomal profile and 36 had unbalanced abnormalities. No amplification was detected. Fluorescence in situ hybridization (FISH) with centromeric and unique sequence probes was used in those cases with discrepancies or unsuccessful karyotype to validate CGH results. CGH enabled clear identification of unbalanced chromosomal abnormalities, even in some cases which had a normal karyotype. In view of the strong prognostic value of hyperdiploidy in childhood ALL, CGH appears to be a powerful technique, complementary to conventional cytogenetics.
细胞遗传学在儿童急性淋巴细胞白血病（ALL）中具有很强的预后价值，但由于染色体形态不佳，结果往往不完整。为了改进这种分析，我们测试了比较基因组杂交（CGH）用于检测染色体失衡。对72名儿童进行了CGH回顾性分析。只有53%的患者通过标准方法进行了完全显带。通过CGH，36名患者保留了正常的染色体图谱，36名患者存在不平衡异常。未检测到扩增。对于那些核型分析有差异或不成功的病例，使用着丝粒和独特序列探针的荧光原位杂交（FISH）来验证CGH结果。CGH能够清晰地识别不平衡的染色体异常，即使在一些核型正常的病例中也是如此。鉴于超二倍体在儿童ALL中的强大预后价值，CGH似乎是一种强大的技术，是传统细胞遗传学的补充。
