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

J Clin Res Pediatr Endocrinol. 2021 Aug 23;13(3):342-346. doi: 10.4274/jcrpe.galenos.2020.2020.0051. Epub 2020 Jul 23.

Abstract

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.

Keywords: Medullary thyroid carcinoma; NF1 gene; RET proto-oncogene; children; vandetanib.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Antineoplastic Agents / therapeutic use*
  • Biomarkers, Tumor / genetics*
  • Carcinoma, Neuroendocrine / diagnosis
  • Carcinoma, Neuroendocrine / drug therapy*
  • Carcinoma, Neuroendocrine / genetics
  • Germ-Line Mutation*
  • Homozygote
  • Humans
  • Male
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1 / genetics*
  • Piperidines / therapeutic use*
  • Proto-Oncogene Proteins c-ret / genetics*
  • Quinazolines / therapeutic use*
  • Thyroid Neoplasms / diagnosis
  • Thyroid Neoplasms / drug therapy*
  • Thyroid Neoplasms / genetics
  • Treatment Outcome

Substances

  • Antineoplastic Agents
  • Biomarkers, Tumor
  • NF1 protein, human
  • Neurofibromin 1
  • Piperidines
  • Quinazolines
  • Proto-Oncogene Proteins c-ret
  • RET protein, human
  • vandetanib

Supplementary concepts

  • Thyroid cancer, medullary