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Endocrine Tumor Syndromes/Endocrine Tumor Genetics

Endocrine tumor syndromes are caused by genetic mutations that can be passed on in 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 1 (MEN1)

MEN1 is a genetic mutation of the menin gene which plays a role in suppressing tumor formation. Patients with MEN1 are at increased risk for developing pituitary tumors, pancreatic neuroendocrine tumors and hyperparathyroidism.

Multiple Endocrine Neoplasia Type 2

  • Multiple Endocrine Neoplasia Type 2a (MEN2a)
    MEN2a is a genetic mutation of the RET protooncogene which increases a patient's risk for developing medullary thyroid cancer, hyperparathyroidism and pheochromocytoma
  • Multiple Endocrine Neoplasia Type 2b (MEN2b)
    MEN2b is also a genetic mutation of the RET protooncogene which increases a patient's risk for developing medullary thyroid cancer at a very young age, pheochromocytoma and mucosal neuromas of the lips, tongue and eyelids.
  • Familial Medullary Thyroid Cancer (FMTC)
    FMTC is also caused by a mutation in the RET gene. Families will have several family members affected with a rare thyroid tumor called medullary thyroid cancer. Because medullary thyroid cancer is rare and often caused by mutations in the RET gene, everybody with this diagnosis should discuss genetic testing for the inherited condition.

von Hippel-Lindau (VHL)

von Hippel-Lindau disease is a familial disorder caused by a genetic mutation. Patients with this mutation have increased risk of developing pheochromocytomas, central nervous system hemangioblastomas - inner ear tumors, kidney tumors, pancreatic neuroendocrine tumors and retinal tumors.

The University of Michigan is a designated Comprehensive Clinical Care Center for VHL by the von Hippel-Lindau Family Alliance.

SDHx mutations/Hereditary paraganglioma syndrome

Succinate dehydrogenase (SDH) is an enzyme which is important for the metabolic function of mitochondria. Patients with mutations of these genes have increased risk of pheochromocytomas, paragangliomas, stomach tumors and kidney tumors.

Treatment of Endocrine Tumor Syndromes

Patients and their families who have been diagnosed with endocrine tumor syndromes require care across several different medical specialties including genetics, medicine, surgery, oncology and radiology. The multidisciplinary approach of the Multidisciplinary Endocrine Tumor Clinic at the University of Michigan can address all aspects of care to provide the most innovative and technologically advanced care available. For additional information, visit Endocrine Surgery at the University of Michigan.

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