Supplementary material, Liu.et.al.

Pheochromocytoma and paraganglioma have one of the richest hereditary and most well-defined genetic backgrounds of all neoplasms. Our previous study (honorably published in your journal) has revealed a profound ancestral impact on the clinical and genetic characteristics of paragangliomas outside of head and neck region (non-HNPGLs). A recent analysis of genetic differences between Asians and Europeans/North Americans with paragangliomas noted a lack of data associated with head and neck paraganglioma (HNPGLs) in Asians. To date, it remains unclear whether conclusions based on findings in Europeans/North Americans also apply to Chinese patients. Hence we perform present study (1) to document clinical and genetic features of Chinese patients with HNPGLs; (2) to compare Chinese HNPGLs with European HNPGLs.This retrospective cross-sectional study was based on 222 HNPGL patients from two centers in China and 205 HNPGL patients from Europe (the Netherland and Germany). We documented the clinical and genetic characteristics of HNPGLs in a large representative Chinese cohort. The genetic background of HNPGLs is characterized by enrichment of PVs in SDHx. We revealed differences between male and female patients, between carotid body HNPGLs and jugulotympanicHNPGLs, between those with and without PVs in SDHx. Compared with European patients, Chinese patients were younger, with less multi-local HNPGLs. Recurrence rates were lower in Chinesethan European patients, but metastasis similar.In addition, we added somatic PVs in HRAS, EPAS1, and VHL to the list of pathogenic genes in HNPGLs.The present study fills a gap in the understanding of Chinese patients with HNPGLs, as previously only small numbers of Asian patients with HNPGL were reported. Also the described differences imply the importance of taking ancestry into consideration for management guidelines. Therefore, we believe this work will make a valuable contribution to the Journal of Clinical Endocrinology and Metabolism.