Diagnosis of RET proto-oncogene in a family with a history Tamaulipas positive medullary thyroid cancer

Authors

  • José Aguirre-Ezkauriatza Instituto Tecnológico y de Estudios Superiores de Monterrey, Centro de Biotecnología Femsa, Laboratorio de Biotecnología 5.o piso, Monterrey, Nuevo León, México.
  • Johari Salgado-Gallegos Instituto Tecnológico y de Estudios Superiores de Monterrey, Centro de Biotecnología Femsa, Laboratorio de Biotecnología 5.o piso, Monterrey, Nuevo León, México.
  • José Manuel Aguilar Yáñez Instituto Tecnológico y de Estudios Superiores de Monterrey, Centro de Biotecnología Femsa, Laboratorio de Biotecnología 5.o piso, Monterrey, Nuevo León, México.
  • Xicoténcatl González-Uresti Hospital General “Dr. Norberto Treviño Zapata”, Ciudad Victoria, Tamaulipas, México.
  • Gerardo Humberto Flores-Gutiérrez Universidad Autónoma de Tamaulipas, Unidad Académica Multidisciplinaria Reynosa Aztlán, Reynosa, Tamaulipas, México.

Keywords:

medullary thyroid cancer (CMT), RET protooncogene, molecular diagnosis.

Abstract

In this paper we present the materials and the methodology used to search the mutation of codon 634 of exon 11 of RET Protooncogene of chromosome 10 in 11 persons, which 9 are relatives of a patient already diagnosed clinically and pathologically with medullary thyroid carcinoma, and this is the only case reported in the entire state of Tamaulipas. The mutation was found at codon 634 of exon 11 in positive patient, but not was found in the 9 relatives and in the negative. This concludes that if there is a close relationship between the molecular diagnosis and clinical diagnosis, as family members and the negative don´t present symptomatology of this disease, while positive patient clinically and pathologically diagnosed if present the mutation at codon 634.

References

Airaksinen, M. y Saarma, M. (2002). “The GDNF family: Signalling, biological functions and therapeutic value”, en Nat Rev Neurosci. 3: 383-394.

Belli, S., Storani, M., Dourisboure, R., Podestá, E. y Solano, A. (2003). “Study of RET protooncogene in multiple endocrine neoplasm 2A and in familial medullary thyroid carcinoma. Clinical pathological findings in asymptomatic carriers”, en Medicina Buenos Aires. 63(1): 41-45.

Bergant, D. y Hocevar, M. (2003). “Medullary thyroid carcinoma. Genetic screening and prophylactic thyroidectomies”, en Acta Chir Iugosl. 50(3): 121-124.

Brandi, M. et al. (2001). “Guidelines for diagnosis and therapy of MEN type 1 and type 2”, en J Clin Endocrinol Metab. 86(12): 56, 58-71.

Elisei, R. (2009). “Cell neoplasia”, en Endocrine Abstracts. 20: S20.1.

Jing, S. et al. (1996). “GDNF-induced activation of the Ret protein tyrosine kinase is mediated by GDNFR-a, a novel receptor for GDNF”, en Cell. 85: 1113-1124.

Kouvaraki, M., Shapiro, S., Perrier, N., Cote, G., Gagel, R. y Hoff, A. (2005). “RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors”, en Thyroid. 15(6): 531-544.

Muzza, M. et al. (2010) “Four novel RET germline variants in exons 8 and 11 display oncogenic potential in vitro”, en Journal of Endocrinology. 162: 771-777.

National Cancer Institute. (s. f.) “Cáncer de la tiroides: tratamiento (PDQ®)”. [En línea]. Disponible en: (www.cancer.gov/espanol/pdq/tratamiento/ tiroides/patient. Fecha de consulta: marzo de 2011.

Radian, S., Badiu, C., Capatina, C., Coculescu, M., Grigorescu, F. (2007). “Molecular diagnosis of multiple endocrine neoplasia (men) type 2a: implementation of mutation detection in ret oncogene and challenges in the management of affected individuals”, en Acta Endocrinológica. 3(1): 13-22.

Real, S., Gómez, L., Perinetti, H., Mayorga, L., Pusiol, E. y Roque, M. (2005). “Detección de una mutación no estándar en el protooncogén RET por mutagenesis dirigida”, en Medicina Buenos Aires. 65: 41-46.

Sociedad Mexicana de Nutrición y Endocrinología. (2001). Casos reportados como CMT [En línea]. Disponible en: (http://www.endocrinologia. org.mx/v2/paginas/index.php).

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Published

2011-05-31

How to Cite

Aguirre-Ezkauriatza, J., Salgado-Gallegos, J., Aguilar Yáñez, J. M., González-Uresti, X., & Flores-Gutiérrez, G. H. (2011). Diagnosis of RET proto-oncogene in a family with a history Tamaulipas positive medullary thyroid cancer. CienciaUAT, 5(4), 34–39. Retrieved from https://revistaciencia.uat.edu.mx/index.php/CienciaUAT/article/view/79

Issue

Section

Medicine and Health Sciences

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