文章：

多发性骨髓瘤患者细胞遗传学演变的出现及其预后意义

Occurrence and prognostic significance of cytogenetic evolution in patients with multiple myeloma

原文发布日期：2016-03-11

DOI: 10.1038/bcj.2016.15

类型: Original Article

开放获取: 是

英文摘要：

Cytogenetic evaluation at the time of diagnosis is essential for risk stratification in multiple myeloma, however little is known about the occurrence and prognostic significance of cytogenetic evolution during follow-up. We studied 989 patients with multiple myeloma, including 304 patients with at least two cytogenetic evaluations. Multivariable-adjusted regression models were used to assess the associations between the parameters of interest and cytogenetic evolution as well as overall survival. The prognostic significance of baseline cytogenetic abnormalities was most pronounced at the time of diagnosis and attenuated over time. In the patients with serial cytogenetic evaluations, the presence of t(11;14) at the time of diagnosis was associated with decreased odds of cytogenetic evolution during follow-up (odds ratio (OR)=0.22, 95% confidence interval (CI)=0.09–0.56, P=0.001), while the presence of at least one trisomy or tetrasomy was associated with increased odds (OR=2.96, 95% CI=1.37–6.42, P=0.006). The development of additional abnormalities during the 3 years following diagnosis was associated with increased subsequent mortality (hazard ratio=3.31, 95% CI=1.73–6.30, P<0.001). These findings emphasize the importance of the underlying clonal disease process for risk assessment and suggest that selected patients may benefit from repeated risk stratification.

摘要翻译： 

诊断时的细胞遗传学评估对于多发性骨髓瘤的风险分层至关重要，然而关于随访期间细胞遗传学演变的发生及其预后意义目前知之甚少。我们研究了989例多发性骨髓瘤患者，其中304例患者至少接受过两次细胞遗传学评估。采用多变量调整回归模型评估相关参数与细胞遗传学演变及总生存期之间的关联。基线细胞遗传学异常的预后意义在诊断时最为显著，并随时间推移逐渐减弱。在连续接受细胞遗传学评估的患者中，诊断时存在t(11;14)与随访期间细胞遗传学演变几率降低相关（比值比=0.22，95%置信区间=0.09–0.56，P=0.001），而存在至少一个三体性或四体性则与演变几率增加相关（比值比=2.96，95%置信区间=1.37–6.42，P=0.006）。诊断后3年内出现额外异常与后续死亡率升高相关（风险比=3.31，95%置信区间=1.73–6.30，P<0.001）。这些发现强调了潜在克隆性疾病过程对风险评估的重要性，并提示特定患者可能受益于重复风险分层。

原文链接：

Occurrence and prognostic significance of cytogenetic evolution in patients with multiple myeloma