Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
J Med Genet. 2012 Dec;49(12):768-76. doi: 10.1136/jmedgenet-2012-101192. Epub 2012 Oct 25.
The main objective of this study was to perform a systematic review and meta-analysis on the risk of developing malignant paraganglioma (PGL) in SDHB-mutation and SDHD-mutation carriers. PubMed, EMBASE, Web of Science, COCHRANE and Academic Search Premier (2000-August 2011) and references of key articles were searched to identify potentially relevant studies. The main outcomes were the pooled incidence and prevalence of malignant PGL in SDHB-mutation and SDHD-mutation carriers. A meta-analysis was performed with an exact likelihood approach using a logistic regression with a random effect at the study level. Twelve studies were included. The pooled incidence of malignant PGL in populations comprising both asymptomatic mutation carriers and mutation carriers with manifest non-malignant PGL was 17% (95% CI 10 to 28) for SDHB-mutation carriers and 8% (95% CI 2 to 26) for SDHD-mutation carriers. The pooled risk in prevalence studies was 13% (95% CI 4 to 34) and 4% (95% CI 2 to 7), respectively. In studies comprising only mutation carriers with manifest disease, the pooled prevalence was 23% (95% CI 16 to 33) for SDHB-mutation and 3% (95% CI 1 to 10) for SDHD-mutation carriers. Incidence and prevalence of malignant PGL are higher in SDHB-mutation than in SDHD-mutation carriers, but lower in SDHB-mutation carriers than hitherto appreciated.
本研究的主要目的是对 SDHB 突变和 SDHD 突变携带者发生恶性副神经节瘤（PGL）的风险进行系统评价和荟萃分析。检索了 PubMed、EMBASE、Web of Science、Cochrane 和 Academic Search Premier（2000 年 8 月至 2011 年）以及关键文章的参考文献，以确定可能相关的研究。主要结果是 SDHB 突变和 SDHD 突变携带者中恶性 PGL 的合并发生率和患病率。使用具有随机效应的 logistic 回归进行精确似然法荟萃分析。纳入了 12 项研究。包括无症状突变携带者和有表现出非恶性 PGL 的突变携带者的人群中，SDHB 突变携带者恶性 PGL 的合并发生率为 17%（95%CI 10 至 28），SDHD 突变携带者为 8%（95%CI 2 至 26）。患病率研究中的合并风险分别为 13%（95%CI 4 至 34）和 4%（95%CI 2 至 7）。仅包括有表现出疾病的突变携带者的研究中，SDHB 突变携带者的恶性 PGL 合并患病率为 23%（95%CI 16 至 33），SDHD 突变携带者为 3%（95%CI 1 至 10）。SDHB 突变携带者的恶性 PGL 发生率和患病率高于 SDHD 突变携带者，但低于迄今的估计值。
