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MEN2A — SCE Medical Oncology MCQ

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HardCancer GeneticsMEN2ASCE Medical Oncology

Predictive testing confirms a pathogenic RET C634R variant in an asymptomatic 3-year-old from a MEN2A family. Calcitonin and neck ultrasound are currently normal. What is the preventive plan?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: B — Arrange total thyroidectomy before age 5 and start annual metanephrine, calcium and PTH screening at 8–11 years

Explanation lettering: B = shown as A · E = shown as B · D = shown as C · A = shown as D · C = shown as E

E is correct. RET C634 variants are high risk. NHS genomic guidance recommends calcitonin, thyroid and neck surveillance from age three and prophylactic thyroidectomy before five, because a normal result today does not eliminate rapidly emerging microscopic MTC. Phaeochromocytoma and primary-hyperparathyroidism screening begins later, at roughly 8–11 years. C634 is not in the moderate group, hemithyroidectomy leaves genetically at-risk C cells, and a kinase inhibitor is not a substitute for curative prophylactic surgery. Phaeochromocytoma must be excluded before thyroid surgery in older or potentially affected patients.

Reference: NHS Genomics Education MEN2 guidance: https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/multiple-endocrine-neoplasia-type-2/