RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
- MeSH
- crista neuralis patologie MeSH
- dítě MeSH
- dospělí MeSH
- fenylalanin genetika MeSH
- genetické asociační studie MeSH
- Hirschsprungova nemoc genetika MeSH
- jednonukleotidový polymorfismus fyziologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- medulární karcinom genetika MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mnohočetná endokrinní neoplazie typ 2A genetika MeSH
- nádory štítné žlázy genetika MeSH
- nemoc genetika MeSH
- protoonkogen Mas MeSH
- protoonkogenní proteiny c-ret genetika MeSH
- rodina MeSH
- senioři MeSH
- substituce aminokyselin genetika MeSH
- tyrosin genetika MeSH
- zárodečné mutace MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- fenylalanin MeSH
- MAS1 protein, human MeSH Prohlížeč
- protoonkogen Mas MeSH
- protoonkogenní proteiny c-ret MeSH
- RET protein, human MeSH Prohlížeč
- tyrosin MeSH
Activating germline RET mutations are presented in patients with familial medullary thyroid carcinoma (FMTC) and multiple endocrine neoplasia (MEN) types 2A and 2B, whereas inactivating germline mutations in patients with Hirschsprung's disease (HSCR). The aim of this study was to evaluate genotype-phenotype correlations of the frequently discussed Tyr791Phe mutation in exon 13 of the RET proto-oncogene. Screening of three groups of patients was performed (276 families with medullary thyroid carcinoma (MTC), 122 families with HSCR, and 29 patients with pheochromocytoma). We found this mutation in 3 families with apparently sporadic MTC, 3 families with FMTC/MEN2, 1 patient with pheochromocytoma, and 3 families with HSCR. All gene mutation carriers have a silent polymorphism Leu769Leu in exon 13. In three families second germline mutations were detected: Cys620Phe (exon 10) in MEN2A family, Met918Thr (exon 16) in MEN2B family, and Ser649Leu (exon 11) in HSCR patient. Detection of the Tyr791Phe mutation in MEN2/MTC and also in HSCR families leads to the question whether this mutation has a dual character (gain-of-function as well as loss-of-function). A rare case of malignant pheochromocytoma in a patient with the Tyr791Phe mutation is presented. This study shows various clinical characteristics of the frequently discussed Tyr791Phe mutation.
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