Jantus Lewintre Eloisa, Reinoso Martín Cristina, Montaner David, Marín Miguel, José Terol María, Farrás Rosa, Benet Isabel, Calvete Juan J, Dopazo Joaquín, García-Conde Javier
Molecular Haematology Laboratory, Prince Felipe Research Centre, Valencia, Spain.
Leuk Lymphoma. 2009 Jan;50(1):68-79. doi: 10.1080/10428190802541807.
B cell chronic lymphocytic leukemia (CLL) is a lymphoproliferative disorder with a variable clinical course. Patients with unmutated IgV(H) gene show a shorter progression-free and overall survival than patients with immunoglobulin heavy chain variable regions (IgV(H)) gene mutated. In addition, BCL6 mutations identify a subgroup of patients with high risk of progression. Gene expression was analysed in 36 early-stage patients using high-density microarrays. Around 150 genes differentially expressed were found according to IgV(H) mutations, whereas no difference was found according to BCL6 mutations. Functional profiling methods allowed us to distinguish KEGG and gene ontology terms showing coordinated gene expression changes across subgroups of CLL. We validated a set of differentially expressed genes according to IgV(H) status, scoring them as putative prognostic markers in CLL. Among them, CRY1, LPL, CD82 and DUSP22 are the ones with at least equal or superior performance to ZAP70 which is actually the most used surrogate marker of IgV(H) status.
B细胞慢性淋巴细胞白血病（CLL）是一种临床病程多变的淋巴细胞增殖性疾病。免疫球蛋白重链可变区（IgV(H)）基因未发生突变的患者，其无进展生存期和总生存期比IgV(H)基因突变的患者短。此外，BCL6突变可识别出具有高进展风险的患者亚组。我们使用高密度微阵列分析了36例早期患者的基因表达情况。根据IgV(H)突变发现约150个基因存在差异表达，而根据BCL6突变未发现差异。功能谱分析方法使我们能够区分KEGG和基因本体术语，这些术语显示了CLL亚组间基因表达的协同变化。我们根据IgV(H)状态验证了一组差异表达基因，并将它们作为CLL中假定的预后标志物进行评分。其中，CRY1、LPL、CD82和DUSP22至少具有与ZAP70同等或更优的性能，而ZAP70实际上是最常用的IgV(H)状态替代标志物。
