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Genetic diagnosis of hereditary and sporadic forms of medullary thyroid cancer: clinical importance and perspectives

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The genetic diagnosis of medullary thyroid cancer reveals distinct mutations in hereditary vs. sporadic cases.
Significant findings include the prognostic relevance of RET and RAS mutations impacted by tumor genetics.
Molecular diagnostics play a crucial role in verifying diagnoses and informing treatment decisions.
Current research highlights the value of targeted therapies like tyrosine kinase inhibitors for personalized treatment.

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Review summarizes RET and RAS mutations in hereditary and sporadic medullary thyroid cancer, indicating personalized therapy options.

Chevais et al. (2025) studied this question.

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