The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD 21287, USA.
Clin Lymphoma Myeloma Leuk. 2012 Apr;12(2):132-7. doi: 10.1016/j.clml.2011.12.005. Epub 2012 Jan 28.
Most patients with CLL with a poor-risk cytogenetic profile have an unmutated IGHV sequence. Limited clinical information exists for patients with CLL who have a poor-risk cytogenetic profile and a mutated or good-risk IGHV status. We retrospectively screened all patients with CLL seen at our institution from 2006 onward who harbored a del(11q) or del(17p) CLL detected by fluorescence in situ hybridization (FISH) analysis for whom an IGHV analysis was requested. In 66 evaluable patients, 50 (76%) had an unmutated IGHV sequence. Thirty-nine patients (59%) had del(11q) and 27 patients (41%) had del(17p); no patient in this series had both del(11q) and del(17p). The patients' initial clinical presentations were similar in both mutational groups. Patients with an unmutated IGHV sequence were more likely to receive treatment and to have a shorter survival, with an estimated 3-year overall survival (OS) of 81% compared with 100% in the group with a mutated IGHV sequence (log rank, P = .06). These data suggest that IGHV mutational status has prognostic relevance even in patients with CLL who are defined as poor risk by genomic FISH analysis.
大多数具有不良细胞遗传学特征的 CLL 患者具有未突变的 IGHV 序列。对于具有不良细胞遗传学特征和突变或良好 IGHV 状态的 CLL 患者,临床信息有限。我们回顾性筛选了 2006 年以来在我们机构就诊的所有携带通过荧光原位杂交 (FISH) 分析检测到的 del(11q)或 del(17p) CLL 的患者,这些患者的 IGHV 分析请求。在 66 例可评估的患者中,有 50 例(76%)具有未突变的 IGHV 序列。39 例患者(59%)存在 del(11q),27 例患者(41%)存在 del(17p);该系列中没有患者同时存在 del(11q)和 del(17p)。在两个突变组中,患者的初始临床表现相似。具有未突变 IGHV 序列的患者更有可能接受治疗,且生存期更短,估计 3 年总生存率(OS)为 81%,而 IGHV 序列突变组为 100%(对数秩,P =.06)。这些数据表明,IGHV 突变状态具有预后意义,即使在通过基因组 FISH 分析定义为不良风险的 CLL 患者中也是如此。