Unifying Concepts

Diagnosis of Multiple Endocrine Neoplasia Syndromes

The multiple endocrine neoplasia (MEN) syndromes are rare autosomal-dominant conditions that predispose affected individuals to benign and malignant tumors of the pituitary, thyroid, parathyroids, adrenals, endocrine pancreas, paraganglia, or nonendocrine organs.


Mutated gene




Primary hyperparathyroidism (usually four-gland hyperplasia), anterior pituitary adenomas, tumors of endocrine pancreas and duodenum, foregut carcinoids

MEN subtype 2A

RET proto-oncogene

Medullary thyroid cancer, pheochromocytoma, primary hyperparathyroidism (usually single adenoma), cutaneous lichen amyloidosis, Hirschsprung disease

MEN subtype 2B

RET proto-oncogene

Medullary thyroid cancer, pheochromocytoma, marfanoid body habitus, facial features resulting from mucosal neuromas, ganglioneuromatosis of the gastrointestinal tract

Familial medullary thyroid cancer

RET proto-oncogene

Medullary thyroid cancer in at least four family members, with documented absence of other endocrinopathies

Hyperparathyroidism-jaw tumor syndrome


Primary hyperparathyroidism (usually single adenoma), ossifying fibromas of maxilla or mandible, renal cysts and hamartomas, 15% risk of parathyroid carcinoma

Familial isolated hyperparathyroidism

MEN1, HRPT2, CASR, other

Nonsyndromic primary hyperparathyroidism

Familial hypocalciuric hypercalcemia


Benign hypercalcemia; medical management only

von Hippel-Lindau syndrome (VHL)


Pheochromocytoma, retinal and central nervous system hemangioblastoma, renal cysts and clear cell carcinoma, pancreatic cysts and islet cell tumors, endolymphatic sac tumors, papillary cystadenomas of the epididymis and broad ligament

Familial pheochromocytoma/ paraganglioma syndrome


Multiple paragangliomas and pheochromocytoma

Neurofibromatosis type I


Pheochromocytoma, characteristic physical features (eg, café-au-lait spots, neurofibromas, axillary and inguinal freckling)

Cowden syndrome


Nonmedullary thyroid cancer (usually follicular rather than papillary); benign and malignant tumors of skin, oral mucosa, breast, and uterus

Familial adenomatous polyposis


Hundreds of adenomatous colon polyps, colon cancer, cribriform morular variant of papillary thyroid cancer

Carney complex


Endocrine tumors (including thyroid, pituitary, primary pigmented nodular adrenocortical disease), characteristic skin pigmentation, myxomas, melanotic schwannomas

Familial nonmedullary thyroid cancer


Nonsyndromic nonmedullary thyroid cancer



  1. Callender GG, Rich TA, Perrier ND. Multiple endocrine neoplasia syndromes. Surg Clin North Am. 2008 Aug;88(4):863-95 [Medline]

Created: Nov 01, 2008
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