Phenotype of RET 790 mutation

Many RET proto-oncogene mutations lead to medullary thyroid carcinoma (MTC). RET mutations have been divided into three risk groups: high, moderate and low risk (including mutations in codon 790), for which prophylactic thyroidectomy is recommended at various time points. Bihan and colleagues conducted a retrospective study into 77 cases with a codon 790 RET mutation, confirming a non-aggressive form of multiple endocrine neoplasia type 2, which suggests that recent recommendations for making thyroidectomy optional could apply, while careful monitoring is conducted.

Read the full article in European Journal of Endocrinology 169 271–276, DOI: 10.1530/EJE-13-0050.