基因突变对嗜铬细胞瘤/副神经节瘤临床特征及预后的影响  

Effect of gene mutations on clinical features and prognosis of pheochromocytoma/paraganglioma

作　　者：刘海春 高洪波 李赟 李隆敏 邵玉军 Liu Haichun;Gao Hongbo;Li Yun;Li Longmin;Shao Yujun(Department of Radionuclide Treatment Center,Beijing Nuclear Industry Hospital,Beijing 102413,China)

机构地区：[1]北京核工业医院核素诊疗中心,北京102413

出　　处：《国际内分泌代谢杂志》2023年第5期392-395,412,共5页International Journal of Endocrinology and Metabolism

基　　金：北京核工业医院院长基金项目(yzjj-2017-001)。

摘　　要：目的分析基因突变对嗜铬细胞瘤/副神经节瘤(PPGL)患者的临床特征及预后的影响。方法回顾性分析北京核工业医院2019年1月至2022年6月收治的PPGL患者的临床特征、无进展生存期(PFS)在是否存在基因突变方面的差异。结果PPGL患者临床表现多样,以高血压最常见(78%)。26例(51%)患者出现基因突变,类型以SDHB最多(62%);具有基因突变患者中有20例(77%)有高血压。是否具有基因突变在年龄方面差异具有统计学意义(P<0.05)。有基因突变组患者的中位PFS(27个月)短于无基因突变组(80个月),差异有统计学意义(P<0.05)。结论PPGL患者无论有无基因突变其临床表现以高血压最为常见,临床症状多样,缺乏特异性。基因突变以SDHB最为常见,具有基因突变的患者年龄相对较轻,并且出现疾病进展速度较快。Objective To summarize the genetic mutation and clinical features of pheochromocytoma/paraganglioma(PPGL)patients.Methods The clinical characteristics and progression-free survival(PFS)of PPGL patients admitted to Beijing Nuclear Industry Hospital from January 2019 to June 2022 were retrospectively analyzed,and the differences in clinical characteristics and PFS of patients with or without gene mutation of PPGL were compared respectively.Results The clinical manifestations of PPGL patients were varied,with hypertension being the most common manifestation(78%).A total of 26 patients(51%)had genetic mutations with SDHB being the most common type(62%),and 20 patients(77%)with genetic mutations had hypertension.The age of patients was analyzed according to whether there was gene mutation,and the difference was statistically significant(P<0.05).The median PFS of patients with genetic mutation(27 months)was shorter than that of patients without genetic mutation(80 months);the difference was statistically significant(P<0.05).Conclusion The most common clinical manifestations of PPGL patients with or without genetic mutation are hypertension.PPGL have diverse clinical symptoms and lack of specificity.SDHB mutations are most common,and patients with these mutations are relatively young and develop disease at a faster rate.

关 键 词：嗜铬细胞瘤 副神经节瘤 临床特征 基因突变 SDHB基因突变 

分 类 号：R736.6[医药卫生—肿瘤]