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Aggressiveness and age of manifestation of medullary thyroid cancer depend on the risk level of germline RET mutations. For high-risk mutations, preventive thyroidectomy is recommended at young age. In recent years, endoscopic operations for thyroid cancer were introduced in clinical practice. But such experience in pediatrics is very limited. We present a case report of a male patient, 6-year-old with the high-risk germline mutation С634R in RET gene. Close relatives (mother, cousin, and native sister) of the proband, were treated for medullary thyroid cancer. Also, his grandmother on the maternal line and her native brother died at the age of 38 and 37 years because of medullary thyroid cancer progression. Since 3 years old, our patient was under regular exams. At the age of six, calcitonin level was 8 ng/mL, and no evidence of pathology on ultrasound. According to recommendations of American Thyroid Association from 2015 (ATA 2015), preventive thyroidectomy was planned. This operation was performed by transoral vestibular approach. Oral nutrition started on the first day after the operation and the patient was discharged from the hospital. No major complications were observed. Transitory paresthesia and slight edema of the submental compartment were noticed. Consider this, endoscopic operation on the thyroid gland can be performed, as a preventive procedure, for RET gene germline mutation carriers in young age. This method helps avoid scars on the skin of the anterior neck.

Aggressiveness and age of manifestation of medullary thyroid cancer depend on the risk level of germline RET mutations. For high-risk mutations, preventive thyroidectomy is recommended at young age. In recent years, endoscopic operations for thyroid cancer were introduced in clinical practice. But such experience in pediatrics is very limited. We present a case report of a male patient, 6-year-old with the high-risk germline mutation С634R in RET gene. Close relatives (mother, cousin, and native sister) of the proband, were treated for medullary thyroid cancer. Also, his grandmother on the maternal line and her native brother died at the age of 38 and 37 years because of medullary thyroid cancer progression. Since 3 years old, our patient was under regular exams. At the age of six, calcitonin level was 8 ng/mL, and no evidence of pathology on ultrasound. According to recommendations of American Thyroid Association from 2015 (ATA 2015), preventive thyroidectomy was planned. This operation was performed by transoral vestibular approach. Oral nutrition started on the first day after the operation and the patient was discharged from the hospital. No major complications were observed. Transitory paresthesia and slight edema of the submental compartment were noticed. Consider this, endoscopic operation on the thyroid gland can be performed, as a preventive procedure, for RET gene germline mutation carriers in young age. This method helps avoid scars on the skin of the anterior neck. [ABSTRACT FROM AUTHOR]

Genetically caused medullary thyroid cancer (MTC) is associated with unfavorable survival prognosis, so it makes necessary to develop new diagnostic techniques to reveal pre-clinical stage of disease as well as to introduce into clinical practice the effective method of tumor prevention. The article represents first in Russia summary clinical experience of prophylactic thyroidectomy have been executed in the period 1998 – 2015 yeas among ten bearers of RET gene germlinemutation in families with hereditary disease including syndrome MEN2A and familial MTC. Aim: to evaluate the results of surgical treatment of asymptomatic carriers of germinal mutations in the RET gene. Materials and methods. In the period from 1998 to 2015, in two centers: N.N. Blokhin Russian Cancer Research Center, Moscow and A. Tsyb Medical Radiological Research Centre – branch of the National Medical Research Radiological Centre, Obninsk was conducted prophylactic surgical treatment in 10 patients – asymptomatic carriers of germinal mutations in RET. Age of patients – from 2 to 23 years old. 9 patients – from families with the syndrome of multiple endocrineneoplasia type 2A (MEN2A), one – with the family of MTC. According to genealogy in 9 families of patients there have been cases of death from MTC or pheochromocytoma (PC). In all cases, surgical treatment was performed in a volume of TE, two patients additionally performed lymph node dissection VI level. The observation period after surgery ranged from 6 months to 16 years. Results. DNA diagnostics in 8 patients identified a mutation in exon 11, in one case – in exon 10 and one patient had revealed two mutations in exons 13 and 14. The age of patients ranged from 2 to 23 years. Basal calcitonin level was elevated in 7 of 10 patients. Such prophylactic TE in 2 patients was supplemented by selective lymph node dissection. Histological examination of the removal of the thyroid gland (TG) revealed foci of medullary cancer in 6 of 10. At 2 patients revealed a C-cell hyperplasia and at 2 patients were found signs of the well expressed and weakly expressed sclerosis in thyroid tissue. The earliest age to identify MTC was a child 3 years old, mutations in codon 634, from a family where relatives observed for aggressive MTC. In the course of follow-recurrence was detected in one patient, a child of 15 years, a similar mutation carrier. Conclusion. In view of the risk of MTC developing identifying a mutation in RET gene and preventive TE should be carried out as soon as possible. The high risk of MTC developing in RET-gene positive subjects was confirmed in this study (6 cases of cancer from 10 patients).