Abstract
Medullarythyroidcarcinoma (MTC) accountsfor 8-10 % of allthyroidcancers. MTC ismainlysporadic, but anhereditarypattern (multipleendocrineneoplasia type 2 (MEN 2)) ispresent in 25-30 % of cases, as anautosomal-dominant traitdue to germlinemutations of the RET proto-oncogene.
Theprimarytreatment of bothhereditary and sporadicforms of MTC istotalthyroidectomy and removal of allneoplastictissuepresent. Aftersurgery, measurements of serumcalcitonin as a tumourmarkerand carcinoembryonic antigen are markers in thepostsurgicalfollow-up of patientswith MTC as theyreflectthe presence of persistentorrecurrentdisease.
Completeremissionisdemonstrated by undetectable and stimulatedserumcalcitoninmeasurement. In patiens withelevatedbasalcalcitoninorafterstimulation are performedimagingmethods (ultrasound of theneck, CT, scintigraphy, PET/CT).Metastasesoutsidetheneckmayoccur in the liver, lungs, bones and, lessfrequently, brain.
Surgeryisthemaintreatmentforlocal and distantmetastaseswheneverfeasible. In generalisation of dinase are performedtheraphywith131I-MIBG in somecases.
Systemicchemotherapyhas very limited efficacyorduration. Familialcasesmustbeidentified by searchingfor RET proto-oncogenemutations in the proband and in familymembers.