This is a genotype with recommended actions if clinically confirmed. In brief:
- Multiple Endocrine Neoplasia IIA (MEN2A) includes familial medullary thyroid carcinoma (FMTC) as a clinical subtype.
- MEN2A is a hereditary cancer syndrome characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma (PHEO), parathyroid adenoma, and/or primary mild hyperparathyroidism (PHPT).
- Prophylactic thyroidectomy is the cornerstone of management for MTC for patients with MEN2A, including FMTC.
- For MEN2A children with a “high-risk” pathogenic variant, patients should undergo annual ultrasound and screening for increased calcitonin levels starting at 3 years of age and proceed to thyroidectomy when elevated levels are detected or at 5 years of age.
- Biochemical surveillance for PHPT should begin at 11 years and 16 years of age for patients with high- and moderate-risk variants, respectively.
The full ClinGen Actionability report about Multiple Endocrine Neoplasia IIA (MEN2A) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.