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Pregled bibliografske jedinice broj: 68704

Zbornik radova

Autori: Gall-Trošelj, Koraljka; Pavelić, Jasminka; Smoje, Juraj; Kusić, Zvonko; Pavelić, Krešimir
Naslov: Genetic analysis in distinguishing sporadic and familial forms of medullary thyroid carcinoma
Izvornik: Congress Abstract Book: Malformations and Rare Tumors of the Head and NeckZagreb :
Skup: The International Congress on Malformations and Rare Tumors of the Head and Neck, An Interdisciplinary Approach
Mjesto i datum: Zagreb, Hrvatska, 24-27.11.1998.
Ključne riječi: Genetic analysis in distinguishing sporadic and familial forms of medullary thyroid carcinoma
Sažetak:
Introduction: Medullary thyroid carcinoma (MTC) is usually the first sign of multiple endocrine neoplasia (MEN) syndrome type 2. Germline mutations of the ret protooncogene are detected in 98% of MEN 2 affected family members throughout the world. In 5-6% of cases MEN 2A occurs de novo. For MEN 2B this incidence is much more higher (up to 50%). Objectives: It was necessary to determine the type and nature of mutation of c-ret in the members of a large MEN 2A affected Croatian family and also to recognize the new-borns at risk in this family. Moreover, it is necessary to separate the truly sporadic MTC’s from those which occur de novo. Methods: DNA was extracted from the whole blood cells and corresponding tumor tissue, c-ret exons of interest was amplified by PCR and restricted by set of restriction endonucleases (RFLP). Results: Specific mutation at codon 634 of the c-ret protooncogene was detected in affected family members. One de novo case of MEN 2 syndrome, representing in a patient with MTC only, was detected by analyzing c-ret protooncogene. Conclusions: The c-ret is a powerful marker in distinguishing sporadic forms of MTC from those familial. However, following the members of affected MEN 2 family, it may be concluded that the minor changes in the ret protooncogene are not the only genetic changes which can be found in tumors associated with this syndrome.
Vrsta sudjelovanja: Predavanje
Vrsta prezentacije u zborniku: Sažetak
Vrsta recenzije: Međunarodna recenzija
Projekt / tema: 134001
Izvorni jezik: ENG
Kategorija: Znanstveni
Znanstvena područja:
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