MEN

Question 1

MEN 2A (MPP)

Answer 1

• Medullary thyroid cancer
• Pheochromocytoma
• Primary Hyperparathyroidism

RET proto-oncogene on chromosome 10

• Autosomal dominant, high penetrance
• Earlier age (<35YO)

Question 2

MEN 2B (M(M)P)

Answer 2

• Medullary thyroid cancer
• (Marfanoid)
• Pheochromocytoma

RET proto-oncogene on chromosome 10

• Autosomal dominant, high penetrance
• Earlier age (<35YO), more aggressive

Question 3

Screening for tumours (3):

Answer 3

• plasma fractionated metanephrines
• Calcium, PTH - surgical intervention
• Neck ultrasound - MTC

If pheochromocytoma is found, it should be removed prior to thyroidectomy. If the initial testing for coexisting tumors is negative, it is important to evaluate the index patient for pheochromocytoma (MEN2A and 2B) and hyperparathyroidism (MEN2A) yearly.

Question 4

Screening family members:

Answer 4

Once a germline RET mutation is found in an index case, RET mutation analysis should also be performed in first- and second-degree family members. Affected family members require screening for MEN2-associated tumors.

Early diagnosis by screening of “at-risk” family members in MEN2 kindreds is important because identification of specific RET mutations predicts particular phenotypes (age of onset, aggressiveness of MTC, and presence or absence of other endocrine neoplasms) and, thus, guides surveillance for MEN2-associated tumors and management

Question 5

MEN 1 (P,P,P)

Answer 5

• Primary Hyper-PTH - by 50 years, screen calcium/PTH
• Anterior Pituitary tumours - prolactin, GH, CRH
• Pancreatic tumours/Zollinger-Ellison (gastrinoma) syndrome/insulinoma
• MEN1 mutation