Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations

Cases of neurofibromatosis type 1 (NF1)-associated medullary thyroid carcinoma (MTC) or C-cell hyperplasia are rarely associated with other endocrine tumors or cases with a multiple endocrine neoplasia type 2. In these patients, mutations were detected in the NF1 gene but no mutations were detected...

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Autores principales: Demir Gündoğan, Begümhan, Sağcan, Fatih, Tuğ Bozdoğan, Sevcan, Balcı, Yüksel, Tuncel Daloğlu, Ferah, Çıtak, Elvan Cağlar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8388045/
https://www.ncbi.nlm.nih.gov/pubmed/32702947
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0051
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author Demir Gündoğan, Begümhan
Sağcan, Fatih
Tuğ Bozdoğan, Sevcan
Balcı, Yüksel
Tuncel Daloğlu, Ferah
Çıtak, Elvan Cağlar
author_facet Demir Gündoğan, Begümhan
Sağcan, Fatih
Tuğ Bozdoğan, Sevcan
Balcı, Yüksel
Tuncel Daloğlu, Ferah
Çıtak, Elvan Cağlar
author_sort Demir Gündoğan, Begümhan
collection PubMed
description Cases of neurofibromatosis type 1 (NF1)-associated medullary thyroid carcinoma (MTC) or C-cell hyperplasia are rarely associated with other endocrine tumors or cases with a multiple endocrine neoplasia type 2. In these patients, mutations were detected in the NF1 gene but no mutations were detected in the RET gene. Although vandetanib has been shown to improve progression-free survival in adults with advanced MTC, data in pediatric patients are limited. Herein, we report the use and outcome of vandetanib in a pediatric MTC case in which NF1 gene and RET proto-oncogen mutation were identified together.
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spelling pubmed-83880452021-09-01 Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations Demir Gündoğan, Begümhan Sağcan, Fatih Tuğ Bozdoğan, Sevcan Balcı, Yüksel Tuncel Daloğlu, Ferah Çıtak, Elvan Cağlar J Clin Res Pediatr Endocrinol Case Report Cases of neurofibromatosis type 1 (NF1)-associated medullary thyroid carcinoma (MTC) or C-cell hyperplasia are rarely associated with other endocrine tumors or cases with a multiple endocrine neoplasia type 2. In these patients, mutations were detected in the NF1 gene but no mutations were detected in the RET gene. Although vandetanib has been shown to improve progression-free survival in adults with advanced MTC, data in pediatric patients are limited. Herein, we report the use and outcome of vandetanib in a pediatric MTC case in which NF1 gene and RET proto-oncogen mutation were identified together. Galenos Publishing 2021-09 2021-08-23 /pmc/articles/PMC8388045/ /pubmed/32702947 http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0051 Text en ©Copyright 2021 by Turkish Pediatric Endocrinology and Diabetes Society | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Demir Gündoğan, Begümhan
Sağcan, Fatih
Tuğ Bozdoğan, Sevcan
Balcı, Yüksel
Tuncel Daloğlu, Ferah
Çıtak, Elvan Cağlar
Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations
title Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations
title_full Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations
title_fullStr Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations
title_full_unstemmed Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations
title_short Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations
title_sort vandetanib in a child affected by neurofibromatosis type 1 and medullary thyroid carcinoma with both nf1 and homozygous ret proto-oncogen germ-line mutations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8388045/
https://www.ncbi.nlm.nih.gov/pubmed/32702947
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0051
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