Ethnic differences and insights in phaeochromocytomas and paragangliomas
ZHANG Jing
JIANG Jing-jing
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.
Keywords：pheochromocytomaparagangliomageneticsSino-European differences
Publication Date：2024-11-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 886-889 )