The Turkish Journal of Pediatrics 2017 , Vol 59 , Num 5
Child with RET proto-oncogene codon 634 mutation
Dilek İnce 1 ,Bengü Demirağ 2 ,Eda Ataseven 1 ,Yeşim Oymak 2 ,Hale Tuhan 3 ,Osman Zeki Karakuş 4 ,Filiz Hazan 5 ,Ayhan Abacı 3 ,Erdener Özer 6 ,Kamer Mutafoglu 7 ,Nur Olgun 1
1 Departments of Pediatric Oncology, Dokuz Eylül University Faculty of Medicine
2 Departments of Hematology Oncology, Dr. Behçet Uz Children’s Hospital
3 Departments of Endocrinology, Dokuz Eylül University Faculty of Medicine
4 Departments of Surgery, Dokuz Eylül University Faculty of Medicine
5 Departments of Medical Genetics, Dr. Behçet Uz Children’s Hospital
6 Departments of Pathology, Dokuz Eylül University Faculty of Medicine
7 Department of Pediatric Oncology, İzmir University of Economics School of Medicine, İzmir, Turkey
DOI : 10.24953/turkjped.2017.05.014 İnce D, Demirağ B, Ataseven E, Oymak Y, Tuhan H, Karakuş OZ, Hazan F, Abacı A, Özer E, Mutafoglu K, Olgun N. Child with RET proto-oncogene codon 634 mutation. Turk J Pediatr 2017; 59: 590-593.

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 proto-oncogene 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. Keywords : medullary C cell hyperplasia, RET proto-oncogene mutation, prophylactic thyroidectomy

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