中国实用内科杂志2024，Vol.44Issue(11)：886-889,4.DOI:10.19538/j.nk2024110102
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
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分类
医药卫生引用本文复制引用
张晶,蒋晶晶..嗜铬细胞瘤和副神经节瘤的种族差异及启示[J].中国实用内科杂志,2024,44(11):886-889,4.
