嗜铬细胞瘤和副神经节瘤的种族差异及启示
Ethnic differences and insights in phaeochromocytomas and paragangliomas
张晶 1蒋晶晶1
作者信息
- 1. 复旦大学附属中山医院内分泌科,上海 200032
- 折叠
摘要
嗜铬细胞瘤和副神经节瘤(PPGL)是目前已知的遗传性最高的肿瘤.近期研究发现中国PPGL患者与欧洲PPGL患者具有不同的基因学和临床特征.与欧洲人群相比,中国的副神经节瘤患者更多,发生转移的PPGL患者更少,具有HRAS和FGFR1的致病性变异患者更多,而具有NF1和SDHB致病性变异的患者更少.有趣的是,在中国副神经节瘤患者中,有相当一部分携带HRAS和FGFR1基因变异,并且主要分泌肾上腺素.这些发现表明,PPGL的儿茶酚胺表型主要由基因变异决定(cluster 1或cluster 2),而不是肿瘤位置(肾上腺嗜铬细胞瘤或肾上腺外副神经节瘤).此外,中国人群中具有SDHB基因变异的患者更少,部分解释了中国患者中转移性的PPGL更少.这些结果表明,在评估和管理PPGL患者时需要考虑到种族差异的影响.
Abstract
Pheochromocytoma and paraganglioma(PPGL)represent the highest degree of heritability of any known tumor types in humans.Recent studies have found a dramatic difference between Chinese and European patient with regards to both genetics and clinical features of PPGLs.Compared with the European patients,the proportion of PGLs in Chinese patients was higher the prevalence of metastasis was lower and there were more patients with pathogenic variants in HRAS and FGFR1,but fewer patients in NF I and SDHB.Importantly,in Chinese patients,there was a large proportion of PGLs with PVs found in HRAS and FGFR1,mainly with epinephrine-producing capacity.These findings provide solid evidence that genetics variations(cluster 1 vs.cluster 2),rather than location(pheochromocytoma vs.paraganglioma),determines the catecholamine-producing phenotype.Besides,the lower prevalence of SDHB partially explained lower occurrence of metastatic lesions in Chinese patients.These findings underscore the importance of considering ethnic differences when evaluating PPGLs and patient outcomes.
关键词
嗜铬细胞瘤/副神经节瘤/基因学/中欧患者差异Key words
pheochromocytoma/paraganglioma/genetics/Sino-European differences引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据