Karhu R, Knuutila S, Kallioniemi O P, Siltonen S, Aine R, Vilpo L, Vilpo J
Department of Clinical Chemistry, Tampere University Hospital, Finland.
Genes Chromosomes Cancer. 1997 Aug;19(4):286-90. doi: 10.1002/(sici)1098-2264(199708)19:4<286::aid-gcc12>3.0.co;2-e.
The genetic basis and molecular pathogenesis of chronic lymphocytic leukemia (CLL) and the molecular mechanisms responsible for its progression remain poorly understood. Here, karyotyping techniques specifically optimized for CLL, comparative genomic hybridization (CGH), and fluorescence in situ hybridization were used to search for CLL-specific genetic aberrations. CGH and karyotyping both revealed copy number changes in 12 of the 25 CLL cases (48%) analyzed. Loss at 11q emerged as the most common aberration (6 cases), followed by a gain of chromosome 12 (4) and loss at 13q (3). Concordance between CGH and G-banding was found in 23 of the 25 cases (92%), which is more than reported in a recent similar CGH study of CLL. Owing to the basic differences in G-banding and CGH, however, their simultaneous clinical application is recommended. The frequent loss of 11q14-24 suggests that this chromosomal region deserves further attention as a candidate locus involved in the pathogenesis of CLL.
慢性淋巴细胞白血病（CLL）的遗传基础、分子发病机制以及其进展的分子机制仍知之甚少。在此，针对CLL专门优化的核型分析技术、比较基因组杂交（CGH）和荧光原位杂交被用于寻找CLL特异性的基因畸变。CGH和核型分析在分析的25例CLL病例中的12例（48%）均显示出拷贝数变化。11q缺失是最常见的畸变（6例），其次是12号染色体增益（4例）和13q缺失（3例）。25例中的23例（92%）发现CGH与G显带之间具有一致性，这比最近一项类似的CLL的CGH研究报告的比例更高。然而，由于G显带和CGH存在根本差异，建议将它们同时应用于临床。11q14 - 24的频繁缺失表明，该染色体区域作为参与CLL发病机制的候选位点值得进一步关注。
