Familial medullary thyroid carcinoma: case report and literature review

Medullary thyroid carcinoma (MTC) is a malignant tumour of the calcitonin-secreting parafollicular C cells of the thyroid gland. Up to 25% of MTC are associated to pathogenic germinal variants on the proto-oncogene RET (locus 10q11.2), which cause Familial Medullary Thyroid Carcinoma (FMTC) or Multi...

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Detalles Bibliográficos
Autores principales: Barletta Carrillo, Claudia Fiorella, Poterico Rojas, Julio Antonio, Barrionuevo Cornejo, Carlos, Casavilca Zambrano, Sandro, Pinedo Cárdenas, Alcides, Quispe Santibañez, Isela, Castro Mujica, María del Carmen
Formato: Artículo revista
Lenguaje:Español
Publicado: Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2018
Materias:
proteínas proto-oncogénicas c-ret
análisis de secuencia de ADN
neoplasias de la tiroides
neoplasia endocrina múltiple
proto-oncogene proteins c-ret
sequence analysis
DNA
thyroid neoplasms
multiple endocrine neoplasia
Acceso en línea:https://revistas.unc.edu.ar/index.php/med/article/view/20947
Aporte de:
Revista de la Facultad de Ciencias Médicas de Córdoba de Universidad Nacional de Córdoba
Descripción
Sumario:Medullary thyroid carcinoma (MTC) is a malignant tumour of the calcitonin-secreting parafollicular C cells of the thyroid gland. Up to 25% of MTC are associated to pathogenic germinal variants on the proto-oncogene RET (locus 10q11.2), which cause Familial Medullary Thyroid Carcinoma (FMTC) or Multiple Endocrine Neoplasia type 2 (MEN2); genetic conditions inherited with autosomal dominant pattern. We present the first report of a Peruvian family with FMTC and a germinal pathogenic variant on RET proto-oncogene, identified with Sanger sequencing. This manuscript also shows a literature review of this hereditary cancer syndrome, where we highlight the relevance of primary prevention and the potential effect on public health in healthy carriers of germinal pathogenic variants.

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