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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Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2018
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I10-R10-article-209472020-08-18T16:54:34Z Familial medullary thyroid carcinoma: case report and literature review Cáncer Medular de Tiroides familiar: reporte de un caso y revisión de la literatura 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 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 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. El cáncer medular de tiroides (CMT) es un tumor maligno de las células C parafoliculares secretoras de calcitonina. Se estima que el 25% de los casos de CMT se asocian a variantes patogénicas a nivel de línea germinal en el protooncogen RET (locus 10q11.2), que son las causantes del desarrollo de Carcinoma Medular de Tiroides Familiar (CMTF) o de la Neoplasia Endocrina Múltiple tipo 2 (NEM2); condiciones genéticas con patrón de herencia autosómico dominante. Presentamos el primer reporte de una familia peruana con CMTF y con variante patogénica identificada a nivel de línea germinal en el gen RET, mediante secuenciamiento Sanger. Este manuscrito también muestra una revisión de la literatura de este síndrome hereditario oncológico, donde se resalta su importancia en la prevención primaria y potencial efecto en la salud pública en casos de portadores de variantes patogénicas germinales aparentemente sanos. Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2018-12-02 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Caso Clínico text/html application/pdf https://revistas.unc.edu.ar/index.php/med/article/view/20947 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 75 No. 4 (2018); 303-309 Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 75 Núm. 4 (2018); 303-309 Revista da Faculdade de Ciências Médicas de Córdoba; v. 75 n. 4 (2018); 303-309 1853-0605 0014-6722 10.31053/1853.0605.v75.n4 spa https://revistas.unc.edu.ar/index.php/med/article/view/20947/22297 https://revistas.unc.edu.ar/index.php/med/article/view/20947/22541 Derechos de autor 2018 Universidad Nacional de Córdoba http://creativecommons.org/licenses/by-nc/4.0 |
institution |
Universidad Nacional de Córdoba |
institution_str |
I-10 |
repository_str |
R-10 |
container_title_str |
Revistas de la UNC |
language |
Español |
format |
Artículo revista |
topic |
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 |
spellingShingle |
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 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 Familial medullary thyroid carcinoma: case report and literature review |
topic_facet |
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 |
author |
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 |
author_facet |
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 |
author_sort |
Barletta Carrillo, Claudia Fiorella |
title |
Familial medullary thyroid carcinoma: case report and literature review |
title_short |
Familial medullary thyroid carcinoma: case report and literature review |
title_full |
Familial medullary thyroid carcinoma: case report and literature review |
title_fullStr |
Familial medullary thyroid carcinoma: case report and literature review |
title_full_unstemmed |
Familial medullary thyroid carcinoma: case report and literature review |
title_sort |
familial medullary thyroid carcinoma: case report and literature review |
description |
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. |
publisher |
Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
publishDate |
2018 |
url |
https://revistas.unc.edu.ar/index.php/med/article/view/20947 |
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first_indexed |
2022-08-20T01:25:35Z |
last_indexed |
2022-08-20T01:25:35Z |
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