Sporadic pediatric papillary thyroid carcinoma harboring the ETV6/NTRK3 fusion oncogene in a 7-year-old Japanese girl: a case report and review of literature
-
Ryota Otsubo
,
Zhanna Mussazhanova
Abstract
Background:
There have been great concerns about pediatric thyroid cancers after the accident at the Fukushima Daiichi Nuclear Power Plant in 2011.
Case presentation:
We report a case of a 7-year-old Japanese girl with sporadic papillary thyroid carcinoma (PTC) harboring an ETV6/NTRK3 rearrangement. The patient presented with tumors in both lobes and underwent thyroidectomy followed by radioactive iodine (RAI) ablation. Histopathology showed a classic type of PTC with cervical lymph node metastasis.
Conclusions:
Genetic evaluation showed ETV6/NTRK3 fusion but no BRAF mutations or RET/PTC rearrangements. RET/PTC rearrangement and BRAF mutations often contribute to the pathogenesis of PTC; however, rearrangements of NTRK genes are relatively rare in pediatric PTC. Although NTRK rearrangement has been shown to often present unique pathological types and infiltrative architectures in the western population, such findings were not observed in this patient. Thus, the present case of classic PTC with ETV6/NTRK3 rearrangement highlights the disparate collection of clinic-pathological features compared to the trend in the western population. We therefore emphasize the need to further accumulate clinical as well as genetic data in pediatric PTCs.
Acknowledgments
We gratefully acknowledge the assistance of Dr. Sumito Dateki in preoperative diagnosis and hospitalization management. This work was supported in part through the Atomic Bomb Disease Institute, Nagasaki University, and by a Grant-in-Aid for Scientific Research from the Japanese Ministry of Education, Science, Sports, and Culture (No. 16K08714).
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no 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.
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©2018 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Original Articles
- HbA1c levels in children with type 1 diabetes and correlation to diabetic retinopathy
- Relationship between urinary sodium-creatinine ratios and insulin resistance in Korean children and adolescents with obesity
- Prevalence of comorbid conditions pre-existing and diagnosed at a tertiary care pediatric weight management clinic
- The relationship between diet quality and insulin resistance in obese children: adaptation of the Healthy Lifestyle-Diet Index in Turkey
- Outcomes of mitochondrial derived diseases: a single-center experience
- Metabolic and genetic markers’ associations with elevated levels of alanine aminotransferase in adolescents
- Phenotypic presentation of adolescents with overt primary hypothyroidism
- Growth velocity and biological variables during puberty in achondroplasia
- Employing a results-based algorithm to reduce laboratory utilization in ACTH stimulation testing
- Investigating the changes in amino acid values in premature infants: a pilot study
- A hierarchical Bayesian tri-variate analysis on factors associated with anthropometric measures in a large sample of children and adolescents: the CASPIAN-IV study
- Smith-Lemli-Opitz syndrome: clinical and biochemical correlates
- Case Reports
- Sporadic pediatric papillary thyroid carcinoma harboring the ETV6/NTRK3 fusion oncogene in a 7-year-old Japanese girl: a case report and review of literature
- Hypercalcemia, hyperkalemia and supraventricular tachycardia in a patient with subcutaneous fat necrosis
- Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly
- A novel paraneoplastic syndrome with acquired lipodystrophy and chronic inflammatory demyelinating polyneuropathy in an adolescent male with craniopharyngioma
Articles in the same Issue
- Frontmatter
- Original Articles
- HbA1c levels in children with type 1 diabetes and correlation to diabetic retinopathy
- Relationship between urinary sodium-creatinine ratios and insulin resistance in Korean children and adolescents with obesity
- Prevalence of comorbid conditions pre-existing and diagnosed at a tertiary care pediatric weight management clinic
- The relationship between diet quality and insulin resistance in obese children: adaptation of the Healthy Lifestyle-Diet Index in Turkey
- Outcomes of mitochondrial derived diseases: a single-center experience
- Metabolic and genetic markers’ associations with elevated levels of alanine aminotransferase in adolescents
- Phenotypic presentation of adolescents with overt primary hypothyroidism
- Growth velocity and biological variables during puberty in achondroplasia
- Employing a results-based algorithm to reduce laboratory utilization in ACTH stimulation testing
- Investigating the changes in amino acid values in premature infants: a pilot study
- A hierarchical Bayesian tri-variate analysis on factors associated with anthropometric measures in a large sample of children and adolescents: the CASPIAN-IV study
- Smith-Lemli-Opitz syndrome: clinical and biochemical correlates
- Case Reports
- Sporadic pediatric papillary thyroid carcinoma harboring the ETV6/NTRK3 fusion oncogene in a 7-year-old Japanese girl: a case report and review of literature
- Hypercalcemia, hyperkalemia and supraventricular tachycardia in a patient with subcutaneous fat necrosis
- Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly
- A novel paraneoplastic syndrome with acquired lipodystrophy and chronic inflammatory demyelinating polyneuropathy in an adolescent male with craniopharyngioma
