Vandetanib in a child affected by neurofibromatosis type 1 and medullary thyroid carcinoma with both <i>NF1</i> and homozygous <i>RET</i> proto-oncogen germ-line mutations

Creative Commons License

Gundogan B. D., Sagcan F., Bozdogan S., Balci Y., Daloglu F. T., Citak E. C.

Journal of clinical research in pediatric endocrinology, cilt.13, ss.342-346, 2021 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13
  • Basım Tarihi: 2021
  • Doi Numarası: 10.4274/jcrpe.galenos.2020.2020.0051
  • Dergi Adı: Journal of clinical research in pediatric endocrinology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.342-346
  • Anahtar Kelimeler: Medullary thyroid carcinoma, vandetanib, RET proto-oncogene, NF1 gene, children, MULTIPLE ENDOCRINE NEOPLASIA, C-CELL HYPERPLASIA, CANCER, DIAGNOSIS, SPECTRUM, SAFETY
  • Çukurova Üniversitesi Adresli: Evet

Özet

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.