RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest
Language English Country United States Media print-electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
- MeSH
- Neural Crest pathology MeSH
- Child MeSH
- Adult MeSH
- Phenylalanine genetics MeSH
- Genetic Association Studies MeSH
- Hirschsprung Disease genetics MeSH
- Polymorphism, Single Nucleotide physiology MeSH
- Middle Aged MeSH
- Humans MeSH
- Carcinoma, Medullary genetics MeSH
- Adolescent MeSH
- Young Adult MeSH
- Multiple Endocrine Neoplasia Type 2a genetics MeSH
- Thyroid Neoplasms genetics MeSH
- Disease genetics MeSH
- Proto-Oncogene Mas MeSH
- Proto-Oncogene Proteins c-ret genetics MeSH
- Family MeSH
- Aged MeSH
- Amino Acid Substitution genetics MeSH
- Tyrosine genetics MeSH
- Germ-Line Mutation MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Phenylalanine MeSH
- MAS1 protein, human MeSH Browser
- Proto-Oncogene Mas MeSH
- Proto-Oncogene Proteins c-ret MeSH
- RET protein, human MeSH Browser
- Tyrosine 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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