Peková Soña, Baran-Marszak Fanny, Schwarz Jipí, Matoska Václav
Haematologica. 2006 Mar;91(3):ELT01.
It has been accepted that the hypermutation status of immunoglobulin heavy chain genes (IgVH) is one of the most important independent prognostic factors in chronic lymphocytic leukemia (CLL). According to the degree ofIgVH hypermutaion, CLL patients can be stratified into prognostic groups. Given the impact ofIgVH mutation status on clinical setting, it has become highly desirable to standardize the laboratory methodologies used for IgVH mutation status determination. To check the reliability of our laboratory results, we performed a random interlaboratory testing. From 10 CLL samples tested, in 9 cases identical results were obtained in both laboratories. In one case, the result was discordant. The discrepancy was caused by theIgVH database used. This finding prompted us to double-check our cohort of 624 CLL patients, using IgBLAST and IMGT databases. The results showed 7.5% (47/624) discrepancies between both databases. In 21 out of 47 cases, the degree of hypermutation has changed in regard to the database used, resulting in major changes in the prognostic subgroup. Other irregularities between both databases were identified, with yet to be determined significance. In the light of presented data we would like to stress the necessity to identify/compile the most comprehensiveIgVH database to be used for the determination ofIgVH mutation status in CLL.
免疫球蛋白重链基因（IgVH）的高突变状态已被公认为是慢性淋巴细胞白血病（CLL）最重要的独立预后因素之一。根据IgVH高突变程度，CLL患者可分为不同的预后组。鉴于IgVH突变状态对临床情况的影响，标准化用于确定IgVH突变状态的实验室方法变得非常必要。为了检验我们实验室结果的可靠性，我们进行了一次随机的实验室间检测。在检测的10例CLL样本中，两个实验室在9例中获得了相同的结果。在1例中，结果不一致。差异是由所使用的IgVH数据库导致的。这一发现促使我们使用IgBLAST和IMGT数据库对我们的624例CLL患者队列进行再次检查。结果显示两个数据库之间存在7.5%（47/624）的差异。在47例中的21例中，根据所使用的数据库，高突变程度发生了变化，导致预后亚组出现重大变化。还发现了两个数据库之间的其他不规则情况，其意义尚待确定。鉴于所呈现的数据，我们想强调确定/汇编最全面的IgVH数据库以用于CLL中IgVH突变状态测定的必要性。
