Study of germline mutations in patients with pheochromocytoma and paraganglioma in a tertiary level university hospital: Which patients have been studied and what results have been found?

Current clinical practice guidelines recommend that a genetic study is considered in all patients diagnosed with pheochromocytoma or paraganglioma (PPGL). Our study objective was to know how many patients with PPGL undergo genetic studies at a non-specialized university hospital, the clinical factors involved in the decision to make the study, how many patients are found germline mutation, which are the affected genes, and what variables are related to presence of mutations. All patients diagnosed with PPGL at a tertiary university hospital from 2010 to 2015 were enrolled. Age and sex, tumor location and multiplicity, hormone secretion, presence of a clinical syndrome, family history, and medical department in charge were recorded and used to compare patients with (GEN+) and without (GEN-) genetic study, as well as patients with (MUT+) and without (MUT-) germline mutations. Thirty-nine patients were enrolled (21 females and 18 males with a mean age of 53.9±17.8 years). A genetic study was performed in 54% of patients with PPGL. These were younger, were more frequently seen by endocrinologists, and had more often a family history related to PPGL, multiple PPGLs, or hormonally functional tumors. Unilateral head and neck paragangliomas were less common. Germline mutations (3 RET, 3 SDHB, 1 SDHD) were found in 33% of patients, who were younger and more frequently had a clinical syndrome, multiple PPGLs. and a family history of PPGL. Although current clinical practice guidelines recommend that genetic studies are considered in all patients diagnosed with PPGL, studies was requested for 54% of such cases in our healthcare area. Predisposing germline mutations were found in 33% of studies.