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Multiple Endocrine Neoplasia Type 2 (MEN 2)

An inherited syndrome featuring medullary thyroid cancer, pheochromocytoma, and parathyroid disease.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is Multiple Endocrine Neoplasia Type 2 (MEN 2)?

Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant cancer predisposition syndrome caused by gain-of-function mutations in the RET proto-oncogene. It has three subtypes: MEN 2A, MEN 2B, and familial medullary thyroid cancer (FMTC).

MEN 2A is the most common form and is characterized by medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism. MEN 2B presents with medullary thyroid cancer, pheochromocytoma, mucosal neuromas, marfanoid habitus, and intestinal ganglioneuromatosis; it follows a more aggressive course.

Once a genetic diagnosis is established, prophylactic thyroidectomy (in the first year for MEN 2B and around age 5 for MEN 2A) is lifesaving.

Symptoms

Thyroid mass or nodule
Episodic headache, palpitations, sweating (pheochromocytoma)
Hypertensive episodes
Findings of hyperparathyroidism
Marfanoid body habitus (MEN 2B)
Mucosal neuromas (tongue, lips)
Chronic constipation (ganglioneuromatosis)

Risk Factors

Family history of MEN 2
RET gene mutation
Family history of medullary thyroid cancer
Pheochromocytoma at an early age
Recurrent hypertensive episodes
Marfanoid appearance and mucosal neuromas
Familial hyperparathyroidism

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • When medullary thyroid cancer or pheochromocytoma is detected
  • Genetic counseling if there is a family history of MEN 2
  • Mucosal neuromas in a marfanoid-appearing child
  • Resistant hypertension and episodic attacks
  • Prophylactic screening of family members

Treatment Methods

01
Prophylactic total thyroidectomy (timing per mutation type)
02
α-blockade followed by surgical excision in pheochromocytoma
03
Parathyroidectomy in hyperparathyroidism
04
Vandetanib, cabozantinib, or selpercatinib in advanced medullary cancer
05
Lifelong monitoring of calcitonin, CEA, and plasma metanephrines
06
Family screening and genetic counseling

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.