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RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.
Endocrine. 2009 Dec; 36(3):419-24.E

Abstract

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.

Authors+Show Affiliations

Department of Molecular Endocrinology, Institute of Endocrinology, Narodni 8, 116 94, Prague 1, Czech Republic. evaclavikova@endo.czNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19826964

Citation

Vaclavikova, Eliska, et al. "RET Mutation Tyr791Phe: the Genetic Cause of Different Diseases Derived From Neural Crest." Endocrine, vol. 36, no. 3, 2009, pp. 419-24.
Vaclavikova E, Dvorakova S, Sykorova V, et al. RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest. Endocrine. 2009;36(3):419-24.
Vaclavikova, E., Dvorakova, S., Sykorova, V., Bilek, R., Dvorakova, K., Vlcek, P., Skaba, R., Zelinka, T., & Bendlova, B. (2009). RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest. Endocrine, 36(3), 419-24. https://doi.org/10.1007/s12020-009-9242-7
Vaclavikova E, et al. RET Mutation Tyr791Phe: the Genetic Cause of Different Diseases Derived From Neural Crest. Endocrine. 2009;36(3):419-24. PubMed PMID: 19826964.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest. AU - Vaclavikova,Eliska, AU - Dvorakova,Sarka, AU - Sykorova,Vlasta, AU - Bilek,Radovan, AU - Dvorakova,Katerina, AU - Vlcek,Petr, AU - Skaba,Richard, AU - Zelinka,Tomas, AU - Bendlova,Bela, Y1 - 2009/10/14/ PY - 2009/05/13/received PY - 2009/08/03/accepted PY - 2009/10/15/entrez PY - 2009/10/15/pubmed PY - 2011/2/10/medline SP - 419 EP - 24 JF - Endocrine JO - Endocrine VL - 36 IS - 3 N2 - 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. SN - 1559-0100 UR - https://www.unboundmedicine.com/medline/citation/19826964/RET_mutation_Tyr791Phe:_the_genetic_cause_of_different_diseases_derived_from_neural_crest_ L2 - https://dx.doi.org/10.1007/s12020-009-9242-7 DB - PRIME DP - Unbound Medicine ER -