Mutations in neuroendocrine tumors

Neuroendocrine tumors (NETs) are relatively rare tumors arising from modified neurons in sympathetic or parasympathetic ganglia and the adrenal medulla (pheochromocytoma and paraganglioma). 131I-MIBG scintigraphy and 68Ga-Octreotide derivatives (DOTATATE/NOC) PET/CT imaging are used as noninvasive molecular imaging procedure to detect the disease spread throughout the body. Several germline mutations are identified in neuroendocrine tumors that play an important role in disease management. We have screened patients with neuroendocrine tumors for germline mutations using selected gene panels by high throughput sequencing. Identification of germline mutations in blood samples is an easier way for early diagnosis of the disease. Nuclear medicine imaging and germline mutations both have important role in disease management .