Pheochromocytoma/ paraganglioma – benefit of combined germline and tumour testing for PPGL patients

Every patient afflicted with a PPGL tumour should be offered genetic testing, since germline mutations are found in 30% of all PPGL patients and in 80% of young PPGL patients. Integration of germline and tumour sequencing data greatly benefits patients by enhancing detection rates of pathogenic variants. Tumour sequencing is imperative for the identification of potential somatic driver mutations and potential exclusion of hereditary tumour syndromes. This is of importance for patients and their families. Surveillance programs and clinical management programs are needed. The establishment of in vitro models enables fast analysis of VUS in SHDB, VHL and FH (PoC). The aim is to streamline classification of VUS identified in PPGL patients, which contributes to precision cancer medicine.