Familial Neuroendocrine Syndromes
Familial endocrine syndromes are caused by genetic mutations that can be passed through families from generation to generation. Some types of neuroendocrine tumors are found much more frequently in patients with these genetic mutations. Genetic testing can help identify and treat patients and their families, and can prevent complications from advanced neuroendocrine tumors. The most common familial neuroendocrine syndromes are outlined below with their respective genetic mutations and the types of tumors found in these patients.
Multiple Endocrine Neoplasia Type I (MENI)
MENI is a genetic mutation of the menin gene, which plays a role in suppressing tumor formation. Patients with MENI are at increased risk for developing pituitary tumors, pancreatic neuroendocrine tumors and hyperparathyroidism.
Multiple Endocrine Neoplasia Type IIa (MENIIa)
MENIIa is a genetic mutation of the RET proto-oncogene, which increases a patient's risk for developing medullary thyroid cancer, hyperparathyroidism and pheochromocytoma.
Multiple Endocrine Neoplasia Type IIb (MENIIb)
MENIIb is also a genetic mutation of the RET proto-oncogene, which increases a patient's risk for developing medullary thyroid cancer at a very young age, as well as pheochromocytoma and mucosal neuromas of the lips, tongue and eyelids.
Patients with the von Hipple-Lindau disease mutation have an increased risk of developing pheochromocytomas, central nervous system hemangioblastomas, kidney tumors, pancreatic neuroendocrine tumors and retinal tumors.
Succinate dehydrogenase (SDH) is an enzyme that is important for the metabolic function of mitochondria. Patients with SDH mutations have an increased risk of pheochromocytomas, paragangliomas, stomach tumors and kidney tumors.
Treatment of Familial Neuroendocrine Syndromes
Patients and their families who have been diagnosed with familial neuroendocrine syndromes require care across several different medical specialties, including genetics, medicine, surgery, oncology and radiology. The multidisciplinary approach of a neuroendocrine tumor program can address all aspects of innovative and technologically advanced care.