Clinical Exome NGS panel for Hereditary Pheochromocytoma and Paraganglioma diagnosis.
Pheochromocytoma and paraganglioma (PPGLs) are rare neuroendocrine tumors with an annual incidence of approximately 2 cases per million. The hereditary form is more likely to present in younger patients.Even today, PPGL remains a rather complex pathology, difficult to diagnose.This study aims to identify the molecular diagnosis and other driver mutations related to PPGLs using TruSight One Clinical Exome Panel (Illumina, San Diego, CA).The clinical protocol used, examined 28 patients with suspicion of genetic alteration of PPGLs. The variants of genes commonly associated to PPGLs (RET, FH, VHL, SDHA, SDHB, SDHC, SDHD, NF1, MAX, HIF2A and TMEM127) were filtered across the panel. The identification of a germline mutation in patients with apparently sporadic PPGLs could lead to an early diagnosis of multiple or more aggressive tumors or other neoplastic syndromes in patients. Furthermore, these informations can improve the development of targeted primary and secondary prevention programs tailored to these high-risk groups.