Genetsko savjetovanje i testiranje nasljednoga kolorektalnog karcinoma

master's thesis

• Title (english): Genetic counseling and testing of hereditary colorectal carcinoma
• Author: Zrinka Todorić
• Mentor: Tamara Nikuševa Martić (mentor)
• Committee member: Frane Paić (predsjednik povjerenstva)
• Committee member: Ljiljana Šerman (član povjerenstva)
• Committee member: Tamara Nikuševa Martić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Medical Biology); Zagreb
• Defense date and country: 2017-07-14, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Medical Microbiology

Abstract

U ovom radu prikazan je pristup pri genetskom savjetovanju i testiranju nasljednih kolorektalnih karcinoma. Nasljedni kolorektalni karcinomi dijele se na polipozne i nepolipozne. Polipozni se histološki dijele na hamartome, adenomatozne kolorektalne karcinome i miješane. Unutar hamartoma ubrajaju se juvenilni polipozni sindrom (JPS), Peutz-Jeghersov sindrom (PJS), hiperplastični polipozni sindrom (HPS) i PTEN hamartozni tumorski sindrom (PHTS). Adenomatozni kolorektalni karcinomi obuhvaćaju familijarnu adenomatoznu polipozu (FAP) koja se očituje kao Gardnerov i Turcotov sindrom, atenuirana familijarna adenomarozna polipoza (AFAP) te MUTYH- povezana polipoza (MAP). Miješani polipozni sindrom obuhvaća kliničku sliku koja je mješavina različitih vrsta polipa. Nepolipozni kolorektalni karcinom odnosi se na sindrom nepolipoznog karcinoma debelog crijeva (HNPCC) koji se može manifestirati kao, znatno rjeđe, sindrom urođenih ravnih adenoma i znatno češće kao urođeni nepolipozni kolorektalni karcinom koji se očituje kao Lynch I i II. Genetsko testiranje, a prema tome i savjetovanje, omogućeno je u gotovo svakom od navedenih sindroma i zasigurno će činiti normativ u budućem kliničkom pristupu.

Abstract (english)

In this paper we will show how genetic counselling and testing is done in hereditary colorectal carcinomas. Hereditary colorectal carcinomas can be divided into polypous and non-polypous. Polypous carcinomas can be histologically divided into juvenile polyposis syndrome (JPS), Peutz-Jeghers syndrome (PJS), hyperplastic polyposis syndrome (HPS), and PTEN hamartoma tumor syndrome (PHTS). Adenomatous colorectal carcinomas include familial adenomatous polyposis (FAP), which can be divided into Gardner and Turcot syndromes, attenuated familial adenomatous polyposis (AFAP), and MUTYH-associated polyposis (MAP). Hereditary mixed polyposis syndrome includes clinical characteristics of both types. Nonpolyposis colorectal carcinoma (HNPCC) can be, very rarely, congenital plain adenoma syndrome, or, more often, hereditary nonpolyposis colorectal carcinoma, which can be presented as Lynch I or Lynch II syndrome. Genetic testing and counselling can be performed in almost every case of the mentioned syndromes and it will be, certainly, presented in everyday clinical practice in future.

• Keywords: AFAP; FAP; hiperplastični polipozni sindrom; HNPCC; juvenilni polipozni sindrom; Lynchov sindrom I i II; MAP; miješani polipozni sindrom; Peutz-Jeghersov sindrom; PHTS
• Keywords (english): AFAP; FAP; hyperplastic polyposis syndrome; HNPCC; juvenile polyposis syndrome; Lynch I syndrome; Lynch II syndrome; MAP; mixed polyposis syndrome; Peutz-Jeghers syndrome; PHTS
• Language: croatian
• URN:NBN: urn:nbn:hr:105:055637
• 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: 2017-11-09 09:28:56