Child with RET proto-oncogene codon 634 mutation

İNCE D., Demirag B., Ataseven E., Oymak Y., Tuhan H., Karakus O. Z., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.59, no.5, pp.590-593, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 5
  • Publication Date: 2017
  • Doi Number: 10.24953/turkjped.2017.05.014
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.590-593
  • Keywords: medullary C cell hyperplasia, RET proto-oncogene mutation, prophylactic thyroidectomy, MEDULLARY-THYROID CARCINOMA, MANAGEMENT, GUIDELINES
  • Dokuz Eylül University Affiliated: Yes


Herein we reported a 7-year-old child with RET proto-oncogene c634 mutation. Her mother had been diagnosed with medullary thyroid carcinoma (MTC), and treated six years ago. Heterozygous mutation of the RET proto-oncogene at c634 had been detected in her mother. Genetic analysis showed the presence of the same mutation in our patient. Thyroid functions were normal. Serum calcitonin level was found mildly elevated. Parathormone (PTH) and carcinoembrionic antigen (CEA) levels were normal. Prophylactic thyroidectomy and sampling of cervical lymph nodes were performed. Histopathologic examination revealed hyperplasia in thyroid C cells, and reactive lymphadenopathy. The risk of MTC has been reported 100% through the life of patients with RET protooncogene mutation. It has been reported that particularly patients with c634 mutation have more risk of occurence of metastatic and progressive/recurrent MTC. Prophylactic "thyroidectomy, cervical lymph node dissection" before 5-years-of-age should be considered for these patients.