Thyroid carcinoma in children and adolescents: A retrospective review

Background The incidence of thyroid carcinoma has increased in most populations, including pediatric patients. The increase is almost exclusively due to an increase in the incidence of papillary thyroid carcinoma (PTC). Genetic alterations leading to mitogen‐activated protein kinase (MAPK) pathway activation are highly prevalent in PTC, with BRAF V600E mutation being the most common event in adult PTC. Although a lower prevalence of BRAF V600E had been reported among pediatric patients, a higher prevalence of BRAF fusion has been identified in both radiation‐exposed and sporadic pediatric PTC. However, little is known about the prognostic implications of BRAF fusions in pediatric PTC. Procedure In this study, we investigated the prevalence of BRAF alterations (AGK‐BRAF fusion and BRAF V600E mutation) in a large set of predominantly sporadic pediatric PTC cases and correlate with clinicopathological features. Somatic AGK‐BRAF fusion was investigated by RT‐PCR and confirmed by FISH break‐apart. The BRAF V600E mutation was screened using Sanger sequencing. Results AGK‐BRAF fusion, found in 19% of pediatric PTC patients, was associated with distant metastasis and younger age. Conversely, the BRAF V600E, found in 15% of pediatric PTC patients, was correlated with older age and larger tumor size. Conclusion Collectively, our results advance knowledge concerning genetic bases of pediatric thyroid carcinoma, with potential implications for diagnosis, prognosis, and therapeutic approaches.

Section: Introductionmentioning

confidence: 99%

“…Its incidence has been increasing over the past few decades in most populations worldwide . Although rare, the incidence rate has also increased in pediatric population (≤18 years), mainly among adolescents . Actually, in the United States, thyroid carcinoma is the second most prevalent cancer among 15–19 years‐old females .…”

Section: Introductionmentioning

confidence: 99%

AGK‐BRAF is associated with distant metastasis and younger age in pediatric papillary thyroid carcinoma

Sisdelli

Cordioli

Vaisman

et al. 2019

“…Data from the National Cancer Institute Surveillance, Epidemiology, and End Results registry demonstrate a rising incidence of thyroid cancer in patients under the age of 20 . Children with thyroid cancer tend to present with more advanced disease than their adult counterparts . At presentation, the incidence of lymph node involvement in children (40–90%) is roughly double that of adults (20–30%).…”

Section: Introductionmentioning

confidence: 99%

BRAF V600E mutational status in pediatric thyroid cancer

Henke

Perkins

Pfeifer

et al. 2014

This study of pediatric PTC demonstrates that BRAF(V600E) mutations occur in children at a rate comparable to adults. We found a correlation of BRAF(V600E) with the male gender, but no evidence that the mutation correlates with more extensive or aggressive disease. This analysis suggests that differences in disease course of PTC in children versus adults are not strongly dependent upon the presence of the BRAF(V600E) mutation.

“…8 Metastasis was prevalent in both genders in our study, whereas previous studies have reported that boys are more prone to develop metastases. 9,10 Thyroid tumors tend to be larger in the pediatric population compared to adults. 3 Only 12.8% of children in our series had a small tumor <1 cm in size and the rest had larger tumors.…”

Section: Discussionmentioning

confidence: 99%

Differentiated thyroid carcinoma in children: A retrospective analysis of 125 pediatric cases from a single institution in India

Thankamony

Nirmal

Chandar

et al. 2021

Background: Thyroid carcinoma (TC) is extremely rare in children. We assessed the clinicopathological features, outcomes, recurrence pattern, and associated risk factors of differentiated thyroid carcinoma (DTC).Methods: Children aged ≤14 years, pathologically diagnosed as DTC at a tertiary cancer institute between January 1998 and December 2015 were retrospectively analyzed. Survival outcomes were estimated using the Kaplan-Meier method.Results: During 18 years, 125 children with DTC were treated with a male:female ratio of 1:2.3. The median age was 12 years (2-14 years). Anterior neck swelling was the commonest presentation (72.8%). Histopathology revealed papillary thyroid carcinoma (PTC) in 123 children (98.4%). Extrathyroidal extension was seen in 32 children (25.6%). Sixty-eight children (54.4%) had nodal metastases and seven had distant metastasis. Relapse developed in 12 children. All were salvaged with subsequent surgery and radioiodine therapy. Eight children had persistent disease and one had a second malignant neoplasm. The median follow-up period was 9 years 1 month (1-20 years). Five-year recurrence-free survival (RFS) was 94.8% and 5-year overall survival was 100%. Larger tumors (p-value = .001), extrathyroidal extension (pvalue = .001), and nodal metastasis (p-value = .022) were significant predictors for RFS in univariate analysis.Conclusions: Pediatric DTC showed aggressive behavior characterized by a high rate of extrathyroidal extension and nodal and pulmonary metastasis. Persistent disease should be distinguished from recurrent disease as DTCs with metastatic disease remain stable for long time and usually respond well to radioiodine therapy. Our study reaffirmed favorable prognosis despite aggressive presentation and even after relapse.