Preventive Transoral Endoscopic Thyroidectomy by Vestibular Approach in 6-Year-Old Patient with the High-Risk RET C634R Germline Mutation

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 s...

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Main Authors: Yury Panaseykin, Vyacheslav Polkin, Nataliya Severskaya, Pavel Isaev, Aleksey Iliyn, Alisa Plugar, Ekaterina Kupriyanova, Sergey Ivanov, Andrey Kaprin
Format: Article
Language:English
Published: Karger Publishers 2023-09-01
Series:Case Reports in Oncology
Subjects:
Online Access:https://beta.karger.com/Article/FullText/533570
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author Yury Panaseykin
Vyacheslav Polkin
Nataliya Severskaya
Pavel Isaev
Aleksey Iliyn
Alisa Plugar
Ekaterina Kupriyanova
Sergey Ivanov
Andrey Kaprin
author_facet Yury Panaseykin
Vyacheslav Polkin
Nataliya Severskaya
Pavel Isaev
Aleksey Iliyn
Alisa Plugar
Ekaterina Kupriyanova
Sergey Ivanov
Andrey Kaprin
author_sort Yury Panaseykin
collection DOAJ
description 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.
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spelling doaj.art-5554e4808d844a2f8f057a1ec26820472023-10-19T06:45:47ZengKarger PublishersCase Reports in Oncology1662-65752023-09-0116196397110.1159/000533570533570Preventive Transoral Endoscopic Thyroidectomy by Vestibular Approach in 6-Year-Old Patient with the High-Risk RET C634R Germline MutationYury Panaseykin0Vyacheslav Polkin1Nataliya Severskaya2Pavel Isaev3Aleksey Iliyn4Alisa Plugar5Ekaterina Kupriyanova6Sergey Ivanov7Andrey Kaprin8National Medical Research Radiological Center of the Ministry of Health of the Russian Federation, Obninsk, Russian FederationNational Medical Research Radiological Center of the Ministry of Health of the Russian Federation, Obninsk, Russian FederationNational Medical Research Radiological Center of the Ministry of Health of the Russian Federation, Obninsk, Russian FederationNational Medical Research Radiological Center of the Ministry of Health of the Russian Federation, Obninsk, Russian FederationNational Medical Research Radiological Center of the Ministry of Health of the Russian Federation, Obninsk, Russian FederationNational Medical Research Radiological Center of the Ministry of Health of the Russian Federation, Obninsk, Russian FederationNational Medical Research Radiological Center of the Ministry of Health of the Russian Federation, Obninsk, Russian FederationNational Medical Research Radiological Center of the Ministry of Health of the Russian Federation, Obninsk, Russian FederationNational Medical Research Radiological Center of the Ministry of Health of the Russian Federation, Obninsk, Russian FederationAggressiveness 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.https://beta.karger.com/Article/FullText/533570thyroid cancertoetva in pediatricsendoscopic surgerypreventive thyroidectomymedullary cancerret mutationscase report
spellingShingle Yury Panaseykin
Vyacheslav Polkin
Nataliya Severskaya
Pavel Isaev
Aleksey Iliyn
Alisa Plugar
Ekaterina Kupriyanova
Sergey Ivanov
Andrey Kaprin
Preventive Transoral Endoscopic Thyroidectomy by Vestibular Approach in 6-Year-Old Patient with the High-Risk RET C634R Germline Mutation
Case Reports in Oncology
thyroid cancer
toetva in pediatrics
endoscopic surgery
preventive thyroidectomy
medullary cancer
ret mutations
case report
title Preventive Transoral Endoscopic Thyroidectomy by Vestibular Approach in 6-Year-Old Patient with the High-Risk RET C634R Germline Mutation
title_full Preventive Transoral Endoscopic Thyroidectomy by Vestibular Approach in 6-Year-Old Patient with the High-Risk RET C634R Germline Mutation
title_fullStr Preventive Transoral Endoscopic Thyroidectomy by Vestibular Approach in 6-Year-Old Patient with the High-Risk RET C634R Germline Mutation
title_full_unstemmed Preventive Transoral Endoscopic Thyroidectomy by Vestibular Approach in 6-Year-Old Patient with the High-Risk RET C634R Germline Mutation
title_short Preventive Transoral Endoscopic Thyroidectomy by Vestibular Approach in 6-Year-Old Patient with the High-Risk RET C634R Germline Mutation
title_sort preventive transoral endoscopic thyroidectomy by vestibular approach in 6 year old patient with the high risk ret c634r germline mutation
topic thyroid cancer
toetva in pediatrics
endoscopic surgery
preventive thyroidectomy
medullary cancer
ret mutations
case report
url https://beta.karger.com/Article/FullText/533570
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