Medularni karcinom štitnjače

master's thesis

• Title (english): Medullary thyroid carcinoma
• Author: Ivana Topolovec
• Mentor: Ivan Rašić (mentor)
• Committee member: Alan Pegan (predsjednik povjerenstva)
• Committee member: Mihael Ries (član povjerenstva)
• Committee member: Ivan Rašić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Othorhinolaryngology and Head and Neck Surgery); Zagreb
• Defense date and country: 2022-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Otorhinolaryngology

Abstract

Medularni karcinom štitnjače treći je najčešći karcinom štitnjače nakon papilarnog i folikularnog karcinoma. Čini oko 2% svih slučajeva karcinoma štitnjače, a nastaje iz parafolikularnih C stanica koje luče kalcitonin. Najčešće je riječ o sporadičnim (75%), a rjeđe o hereditarnim karcinomima (25%) koji se nasljeđuju autosomno dominantno. Hereditarni karcinomi su češće obostrani i agresivniji te su udruženi s većim brojem drugih tumora. Nastaju kao posljedica mutacija RET protoonkogena u sklopu MEN2A i MEN2B sindroma. Klinički se karcinom najčešće prezentira kao čvor štitnjače koji se slučajno otkrije prilikom fizikalnog pregleda. Dijagnoza medularnog karcinoma štitnjače postavlja se na temelju ultrazvučnog pregleda, FNA te mjerenja kalcitonina i CEA u serumu. Normalne razine kalcitonina iznose manje od 10 pg/ml. Analiza DNA često se koristi kako bi se potvrdile mutacije RET protoonkogena, a ukoliko se dokaže prisutnost mutacije važno je provesti probir među srodnicima pacijenata. Totalna tireoidektomija jedina je terapijska metoda koja može dovesti do izlječenja te se često kombinira s disekcijom vrata. Nažalost, prilikom dijagnoze većina karcinoma već je u uznapredovalom stadiju. U takvim slučajevima u obzir dolazi i sistemska terapija vandetanibom i cabozantinibom. Kemoterapija i radioterapija nemaju zadovoljavajuću uspješnost u liječenju medularnih karcinoma, no korisne su u sprječavanju lokalnih komplikacija karcinoma.

Abstract (english)

Medullary thyroid carcinoma is the third most common thyroid carcinoma after papillary and follicular carcinoma. It accounts for approximately 2% of all cases of thyroid cancer and arises from parafollicular C cells that secrete calcitonin. Sporadic medullary thyroid cancer is the most common type (75%), and it is followed by hereditary carcinomas (25%) that are autosomally dominantly inherited. Hereditary cancers are more often bilateral and more aggressive. They are more often associated with a larger number of other tumors. They are result of mutations in RET protooncogene within MEN2A and MEN2B syndrome. Clinically, cancer is most often presented as a thyroid nodule that is accidentally detected on physical examination. The diagnosis of medullary thyroid carcinoma is made on the basis of ultrasound, FNA and measurements of serum calcitonin and CEA. Normal calcitonin levels are less than 10 pg/ml. DNA analysis is often used to confirm mutations in RET protooncogenes, and if the presence of a mutation is proven, it is important to screen patients’ relatives. Total thyroidectomy is the only therapeutic method that has promising results, and it is often combined with neck dissection. Unfortunately, at the time of diagnosis, most cancers are already at an advanced stage. In such cases, systemic therapy with vandetanib and cabozantinib may be considered. Chemotherapy and radiotherapy do not have satisfactory success in the treatment of medullary cancers, but they are useful in preventing local complications.

• Keywords: medularni karcinom štitnjače; MEN sindrom; kalcitonin; CEA; mutacija RET protoonkogena
• Keywords (english): medullary thyroid carcinoma; MEN syndrome; calcitonin; CEA; RET protooncogene mutation
• Language: croatian
• URN:NBN: urn:nbn:hr:105:566268
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-03-20 09:20:26