New Mutations in the RET Protooncogene-L881V – Associated with Medullary Thyroid Carcinoma and -R770Q – in a Patient with Mixed Medullar/Follicular Thyroid Tumour

Abstract

Our clinical findings indicate that the L881V mutation may be associated with late-onset nonaggressive disease. If the germline RET R770Q variant has a causative role in the pathogenesis of the mixed medullar/follicular derived histology of the thyroid tumour in the index patient of family 1 has to be proven. The recommendations for prophylactic thyroidectomy in these mutations should be individualized depending on basal and stimulated calcitonin levels until more data are available.