Nasljedni sindromi polipoza kolona - kliničke manifestacije, nadzor i liječenje

master's thesis

• Title (english): Hereditary colon polyposis syndromes - clinical manifestations, monitoring and treatment
• Author: Tena Crnjac
• Mentor: Neven Baršić (mentor)
• Committee member: Lucija Virović Jukić (predsjednik povjerenstva)
• Committee member: Marija Bakula (član povjerenstva)
• Committee member: Neven Baršić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Internal Medicine); Zagreb
• Defense date and country: 2023-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

U nasljedne sindrome polipoze kolona uključujemo sindrome poput familijarne adenomatozne polipoze, sindroma juvenilne polipoze, Peutz Jeghersovog sindroma i MUTYH povezane polipoze. Ovim nasljednim sindromima zajednička je pojava multiplih polipoidnih lezija u kolonu, što se naziva polipoza. Polipi u crijevu su tkivne tvorbe koje izrastaju iz crijevne stijenke te se šire u lumen, rijetko daju simptome, ali imaju potencijal maligne transformacije. Većina kolorektalnih karcinoma je nastala iz prethodno benignih polipa, a ovi sindromi dijele i povećan rizik nastanka kolorektalnog i nekih drugih karcinoma. Dijagnoza ovih nasljednih polipoza postavlja se kolonoskopijom i genetskim testiranjem na mutacije koje ih uzrokuju. Kako bi se spriječio razvoj kolorektalnog karcinoma i drugih karcinoma povezanih s polipozom, potrebno je da genetski potvrđene osobe i njihovi bliski rođaci provedu test probira na karcinome za koje su nositelji rizika. Liječenje kolorektalnih polipa može biti endoskopsko (endoskopska resekcija polipa) ili kirurško (resekcija kolona), a kod izraženih polipoza odstranjuje se čitav kolon. I nakon odstranjenja kolona bolesnicima s ovim sindromima potrebne su doživotne kontrole zbog postojanja izvankoloničnih manifestacija, kao i mogućnosti za ponovnim pojavljivanjem polipa.

Abstract (english)

Hereditary colonic polyposis syndromes include syndromes such as familial adenomatous polyposis, juvenile polyposis syndrome, Peutz Jeghers syndrome, and MUTYH related polyposis. These hereditary syndromes have in common the appearance of multiple polypoid lesions in the colon, which is called polyposis. Polyps in the intestine are tissue formations that grow from the intestinal wall and spread into the lumen, they rarely cause symptoms, but have the potential for malignant transformation. Most colorectal cancers arise from previously benign polyps, and these syndromes share an increased risk of developing colorectal and some other cancers. These hereditary polyps are diagnosed by colonoscopy and genetic testing for the mutations that cause them. In order to prevent the development of colorectal cancer and other cancers associated with polyposis, it is necessary for genetically confirmed person and her their close relatives to conduct screening test for cancers which they are at risk. Even after the removal of the colon, patients with these syndromes need lifelong controls due to the existence of extra colonic manifestations, as well as the possibility of polyps reappearing. Currently, the only successful therapy for colorectal polyps is surgical removal of the colon, but regardless of this, patients with these syndromes need lifelong controls due to the presence of extra colonic manifestations and the possibility of polyps reappearing.

• Keywords: nasljedni sindrom polipoze kolona; polipoza; kolorektalni karcinom; FAP; JPS; PJS; MAP
• Keywords (english): hereditary colon polyposis syndrome; polyposis; colorectal cancer; FAP; JPS; PJS; MAP
• Language: croatian
• URN:NBN: urn:nbn:hr:105:128677
• 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: 2023-10-23 12:34:36