About Multiple Endocrine Neoplasia Type 2
Multiple Endocrine Neoplasia Type 2 is an autosomal dominant syndrome caused by activating mutations in the RET proto-oncogene, subdivided into MEN2A (medullary thyroid carcinoma, pheochromocytoma, and primary hyperparathyroidism), MEN2B (medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas, and marfanoid habitus without hyperparathyroidism), and familial medullary thyroid carcinoma. Medullary thyroid carcinoma, arising from calcitonin-secreting parafollicular C-cells, is the most penetrant and life-threatening component, with virtually 100% penetrance in RET mutation carriers, and prophylactic thyroidectomy is recommended at an age determined by the specific RET codon mutation. The genotype-phenotype correlation for RET mutations is among the best characterised in clinical genetics.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Multiple Endocrine Neoplasia Type 2 trials.
Identification of the specific RET codon mutation is essential; trials targeting RET kinase inhibitors require documented RET variant with known risk classification (moderate, high, or highest risk).
Exclude active phaeochromocytoma biochemically before enrolment in any surgical or systemic therapy trial, as unresected phaeochromocytoma is an absolute contraindication to many interventions.
Calcitonin and CEA doubling times are used as prognostic and eligibility criteria in MTC-focused trials; longitudinal serial measurements are more informative than single values.
Patient Resources
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