{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:56:21Z","timestamp":1760954181227},"reference-count":20,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Due to a strong genotype\u2013phenotype correlation, the timing of prophylactic thyroidectomy in rearranged during transfection (<jats:italic>RET<\/jats:italic>) gene mutation carriers is usually dictated by genetic analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and methods<\/jats:title><jats:p>We report a nationwide retrospective study of the clinical data of 77 French patients from 19 families with a mutation in codon 790 of the <jats:italic>RET<\/jats:italic> proto-oncogene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The average age at diagnosis was 35.6 years\u00b120.5. Thirty-nine patients were women. Fifty-five patients underwent operations for the treatment of medullary thyroid carcinoma (MTC) at the mean age of 38 years (4\u201382 years). The mean follow-up duration was 89 months. TNM staging was as follows: T0NxMx in 19, TxNxMx in 1, T1NxMx in 22, T1N1Mx in 8, T2N1Mx in 1 and T3N1Mx in four patients. In the T1\/x-Nx group, 96% were considered cured after surgery. In the N1 group (<jats:italic>n<\/jats:italic>=13), six patients had multifocal disease and five patients were cured. Age and gender were not significant predictors of remission. Twenty-two patients did not undergo an operation (age 1.5\u201378 years); among them, 11 patients had a mean basal calcitonin (CT) level of 9.8\u200apg\/ml (2\u201324) after 53 months of follow-up. One patient had been operated on for phaeochromocytoma (PHEO), and their CT level remained normal for 262 months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study confirms that <jats:italic>RET<\/jats:italic> 790 mutation is associated with a non-aggressive form of multiple endocrine neoplasia type 2, as 28% of the patients were followed up without thyroidectomy, 25% had been thyroidectomised with no tumour being detected and even patients with MTC had slow-evolving disease. 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