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Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Genetics - Health Professional Information [NCI] - Introduction

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Some families previously classified as having FMTC will go on to develop one or more of the MEN2A-related tumors, suggesting that FMTC is simply a milder variant of MEN2A. Offspring of affected individuals have a 50% chance of inheriting the RET gene mutation.

The age at onset of MTC is different for each subtype of MEN2. MTC typically occurs during early childhood in patients with MEN2B, predominantly during early adulthood in patients with MEN2A, and during middle-age in patients with FMTC.

Germline DNA -based testing of the RET gene (chromosomal region 10q11.2) identifies disease-causing mutations in more than 95% of individuals with MEN2A and MEN2B and in about 88% of individuals with FMTC.[3]

The prevalence of MEN2 has been estimated to be between 1 in 30,000 [4,5] and 1 in 35,000 individuals.[6] The vast majority of MEN2 cases are MEN2A. In the United States, an estimated 451 cases of MEN2-related MTC are diagnosed per year.[7]

Paragangliomas and pheochromocytomas are rare tumors arising from chromaffin cells, which have the ability to synthesize, store, and secrete catecholamines and neuropeptides. In 2004, the World Health Organization characterized pheochromocytomas as tumors arising in the adrenal gland.[6] Paragangliomas may occur sporadically, as a manifestations of a hereditary syndrome, or as the sole tumor in hereditary paraganglioma/pheochromocytoma syndrome.

References:

  1. Agarwal SK, Ozawa A, Mateo CM, et al.: The MEN1 gene and pituitary tumours. Horm Res 71 (Suppl 2): 131-8, 2009.
  2. Eng C: Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N Engl J Med 335 (13): 943-51, 1996.
  3. Brandi ML, Gagel RF, Angeli A, et al.: Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86 (12): 5658-71, 2001.
  4. Mulligan LM, Kwok JB, Healey CS, et al.: Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363 (6428): 458-60, 1993.
  5. Donis-Keller H, Dou S, Chi D, et al.: Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 2 (7): 851-6, 1993.
  6. DeLellis RA, Lloyd RV, Heitz PU, et al., eds.: Pathology and Genetics of Tumours of Endocrine Organs. Lyon, France: IARC Press, 2004. World Health Organization classification of tumours, vol. 8.
  7. American Cancer Society.: Cancer Facts and Figures 2013. Atlanta, Ga: American Cancer Society, 2013. Available online. Last accessed September 5, 2013.

WebMD Public Information from the National Cancer Institute

Last Updated: September 04, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.
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