Clinical and genetic characteristics of head and neck paragangliomas from China featuring Sino-European comparisons

Head and neck paragangliomas (HNPGLs) are tumors of parasympathetic origin, predominantly associated with pseudohypoxia and pathogenic variants (PVs) in succinate dehydrogenase (SDH) subunits, mainly based on studies in Europeans/Americans.

This work aimed to assess the genetics of HNPGLs in a large Chinese cohort and compare them with European cases.

A retrospective cohort study was conducted of HNPGLs from 2 Chinese tertiary-care centers and 2 European centers. Participants included 222 Chinese and 205 European HNPGL patients. Main outcome measures included clinical presentation and genetic status assessed via next-generation sequencing of tumor/blood samples.

The Chinese HNPGL cohort consisted mainly of carotid body HNPGLs (86.9%), fewer jugulotympanic (12.2%), and no vagal HNPGLs. Jugulotympanic HNPGLs showed higher recurrence than carotid body HNPGLs (30.4% vs 8.5%; P = .009). PVs were detected in 62.2% of Chinese patients, predominantly in SDHx genes. PV frequency was higher in carotid body than jugulotympanic HNPGLs (65.8% vs 37%; P = .004), and in more male than female patients (75.9% vs 54.0%; P = .001). Compared to those without SDHx PVs, SDHx PVs carriers were younger (41.0 vs 49.0; P < .001), with more multifocal tumors (20.8% vs 7.6%; P = .007) and less often female (53.1% vs 76.1%; P < .001). Compared with Europeans, Chinese patients were younger (45.0 vs 54.3; P < .001), with fewer multilocal HNPGLs (0.9 vs 13.7%; P < .001), lower rates of recurrence (13.7% vs 28.0%; P = .007), but similar metastasis rates (3.9% vs 5.0%; P = .668).

This is the first report of HNPGLs in a large Chinese cohort. Clinical presentation and practice as well as ancestry all likely contribute to the differences observed between Chinese and European patients.