Clinical characteristics, surgical approach, BRAFV600E mutation and sodium iodine symporter expression in pediatric patients with thyroid carcinoma
-
Paula Castro
,
Esteban Patiño
Abstract
Objectives
Thyroid cancer is the most common endocrine neoplasm in childhood. There are few studies characterizing pediatric population in Colombia. We intend to detail the clinical, histological characteristics, BRAFV600E mutational status and NIS (sodium-iodine symporter) expression of children with papillary thyroid carcinoma (PTC) managed at Hospital de La Misericordia.
Methods
Medical records of the Department of Pediatric Surgery and Pathology from 2009 to 2018 were scrutinized in search of cases of differentiated thyroid carcinoma. A descriptive analysis was made. Paraffin embedded tumoral tissue was recovered to assess BRAF V600E mutational status by PCR and NIS expression by immunohistochemistry.
Results
Sixteen patients were selected, 81.2% were girls. Average age of presentation was 11.8 years. Only one patient had previous radiation exposure. Most frequent symptom was cervical adenopathy with a mean time of 29.2 weeks before diagnosis. 93.7% underwent total thyroidectomy and lymphadenectomy. 62.5% were PTC combining both classic and follicular pattern. 6.25% cases had BRAFV600E mutation and 25% showed NIS focal reactivity.
Conclusions
We found greater female predominance, lower percentage of risk factors described and a high percentage of patients requiring aggressive surgical treatment. We consider important to contemplate thyroid cancer as a differential diagnosis of cervical lymph node enlargement in children. Diagnosis can be challenging in benign and indeterminate categories of the FNA cytology and biomolecular profiles such as BRAF and NIS could be determinant in guiding treatment. More studies with larger sample size, complete genetic analysis, evaluation to iodine response and long term follow up are required.
Research funding: None declared.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: No funding organizations played a role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical statement: A retrospective descriptive study was submitted to the institutional ethics committee. After approval, a review of the medical records of selected patients was carried out and information related to presentation mode, background, diagnostic workup, surgical management and histology was extracted.
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© 2020 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review Article
- The influence of growth hormone therapy on the cardiovascular system in Turner syndrome
- Original Articles
- Clinical utility of urinary gonadotrophins in hypergonadotrophic states as Turner syndrome
- Sclerostin and osteoprotegerin: new markers of chronic kidney disease mediated mineral and bone disease in children
- Monthly intravenous alendronate treatment can maintain bone strength in osteogenesis imperfecta patients following cyclical pamidronate treatment
- Mechanisms and early patterns of dyslipidemia in pediatric type 1 and type 2 diabetes
- Frequency of thyroid dysfunction in pediatric patients with congenital heart disease exposed to iodinated contrast media – a long-term observational study
- Effect of growth hormone therapy on thyroid function in isolated growth hormone deficient and short small for gestational age children: a two-year study, including on assessment of the usefulness of the thyrotropin-releasing hormone (TRH) stimulation test
- Clinical relevance of T lymphocyte subsets in pediatric Graves’ disease
- Long-term follow-up of differentiated thyroid carcinoma in children and adolescents
- A quality improvement project for managing hypocalcemia after pediatric total thyroidectomy
- Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil
- Clinical characteristics, surgical approach, BRAFV600E mutation and sodium iodine symporter expression in pediatric patients with thyroid carcinoma
- BRAFV600E and TERT promoter mutations in paediatric and young adult papillary thyroid cancer and clinicopathological correlation
- Case Reports
- Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence
- Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review
- Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature
- Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism
- Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures
Artikel in diesem Heft
- Frontmatter
- Review Article
- The influence of growth hormone therapy on the cardiovascular system in Turner syndrome
- Original Articles
- Clinical utility of urinary gonadotrophins in hypergonadotrophic states as Turner syndrome
- Sclerostin and osteoprotegerin: new markers of chronic kidney disease mediated mineral and bone disease in children
- Monthly intravenous alendronate treatment can maintain bone strength in osteogenesis imperfecta patients following cyclical pamidronate treatment
- Mechanisms and early patterns of dyslipidemia in pediatric type 1 and type 2 diabetes
- Frequency of thyroid dysfunction in pediatric patients with congenital heart disease exposed to iodinated contrast media – a long-term observational study
- Effect of growth hormone therapy on thyroid function in isolated growth hormone deficient and short small for gestational age children: a two-year study, including on assessment of the usefulness of the thyrotropin-releasing hormone (TRH) stimulation test
- Clinical relevance of T lymphocyte subsets in pediatric Graves’ disease
- Long-term follow-up of differentiated thyroid carcinoma in children and adolescents
- A quality improvement project for managing hypocalcemia after pediatric total thyroidectomy
- Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil
- Clinical characteristics, surgical approach, BRAFV600E mutation and sodium iodine symporter expression in pediatric patients with thyroid carcinoma
- BRAFV600E and TERT promoter mutations in paediatric and young adult papillary thyroid cancer and clinicopathological correlation
- Case Reports
- Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence
- Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review
- Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature
- Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism
- Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures
