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Genetic analysis in distinguishing sporadic and familial forms of medullary thyroid carcinoma


Gall-Trošelj, Koraljka; Pavelić, Jasminka; Smoje, Juraj; Kusić, Zvonko; Pavelić, Krešimir
Genetic analysis in distinguishing sporadic and familial forms of medullary thyroid carcinoma // Congress Abstract Book: Malformations and Rare Tumors of the Head and Neck
Zagreb, 1998. str. 9-9 (predavanje, međunarodna recenzija, sažetak, znanstveni)


Naslov
Genetic analysis in distinguishing sporadic and familial forms of medullary thyroid carcinoma

Autori
Gall-Trošelj, Koraljka ; Pavelić, Jasminka ; Smoje, Juraj ; Kusić, Zvonko ; Pavelić, Krešimir

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Congress Abstract Book: Malformations and Rare Tumors of the Head and Neck / - Zagreb, 1998, 9-9

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.

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

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.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita



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