Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene
Jazyk angličtina Země Německo Médium print
Typ dokumentu srovnávací studie, časopisecké články, práce podpořená grantem
- MeSH
- časové faktory MeSH
- dospělí MeSH
- genetické testování metody MeSH
- Hirschsprungova nemoc komplikace diagnóza genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mutace * MeSH
- mutační analýza DNA MeSH
- nádory štítné žlázy komplikace diagnóza genetika MeSH
- následné studie MeSH
- neuroendokrinní karcinom MeSH
- prospektivní studie MeSH
- protoonkogen Mas MeSH
- protoonkogenní proteiny c-ret genetika MeSH
- retrospektivní studie MeSH
- rizikové faktory MeSH
- rodokmen MeSH
- senioři nad 80 let MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- srovnávací studie MeSH
- Názvy látek
- MAS1 protein, human MeSH Prohlížeč
- protoonkogen Mas MeSH
- protoonkogenní proteiny c-ret MeSH
PURPOSE: Inactivating germline mutations in the RET proto-oncogene are the major genetic cause of Hirschsprung's disease (HD). In some cases, HD can be associated with medullary thyroid carcinoma (MTC) that is commonly caused by activating RET mutations. METHODS: The retrospective and prospective genetic analyses of 157 patients with HD operated on between December 1979 and June 2011 were carried out. DNA was isolated from peripheral leukocytes. HD patients and family members were tested for RET mutations by direct sequencing and single-strand conformation polymorphism methods. RESULTS: RET mutations were detected in 16 patients (10%). Association with MTC was found in two families, other eight families had a mutation with potentially high risk of MTC development and four novel mutations were detected. Total colonic aganglionosis was noted to have a high mutation detection rate (40%). Three patients underwent total thyroidectomy (two had clinical manifestation of MTC, one C-cell hyperplasia). CONCLUSION: Results show the benefit of systematic RET mutation screening in HD patients in order to identify the risk of MTC in the preclinical stage of the disease. All patients should be tested for RET mutations at least in exon 10, and now additionally in exon 11 and 13, as well.
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