Mutational Analysis in Pediatric Thyroid Cancer and Correlations with Age, Ethnicity, and Clinical Presentation
Background: Well-differentiated thyroid cancer (WDTC) incidence in pediatrics is rising, most being papillary thyroid carcinoma (PTC). The objective of the study was to assess the prevalence of different mutations in pediatric WDTC and correlate the genotype with the clinical phenotype. Methods: Thi...
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Veröffentlicht in: | Thyroid (New York, N.Y.) N.Y.), 2016-02, Vol.26 (2), p.227-234 |
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Zusammenfassung: | Background:
Well-differentiated thyroid cancer (WDTC) incidence in pediatrics is rising, most being papillary thyroid carcinoma (PTC). The objective of the study was to assess the prevalence of different mutations in pediatric WDTC and correlate the genotype with the clinical phenotype.
Methods:
This is a single-center retrospective study. Thyroid tissue blocks from 42 consecutive pediatric WDTC patients who underwent thyroidectomy between 2001 and 2013 were analyzed at Quest Diagnostics for
BRAF
V600E
,
RAS
mutations (
N,K,H
), and
RET/PTC
and
PAX8/PPARγ
rearrangements, using validated molecular methods. Thyroid carcinomas included PTC, follicular thyroid carcinoma (FTC), and follicular variant of PTC (FVPTC).
Results:
Thirty-nine samples (29 females) were genotyped. The mean age at diagnosis was 14.7 years (range 7.9–18.4 years), and most were Hispanic (56.4%) or Caucasian (35.9%). The mean follow-up period was 2.9 years. Mutations were noted in 21/39 (53.8%), with both
BRAF
V600E
(
n
= 9), and
RET/PTC
(
n
= 6) detected only in PTC. Mutations were detected in 2/5 FTC (
PAX8/PPARγ
and
NRAS
) and 3/6 FVPTC cases (
PAX8/PPARγ
). Of 28 PTC patients, 57.1% had mutations: 32.1% with
BRAF
V600E
, 21.4% with
RET/PTC
, and 3.6% with
NRAS
. Of patients with
BRAF
V600E
, 77.8% were Hispanic and 88.9% were >15 years, while all
RET/PTC
-positive patients were ≤15 years (
p
= 0.003). Tumor size, lymph node involvement, and distant metastasis at diagnosis (or soon after
131
I ablation) did not vary significantly based on the mutation.
Conclusions:
BRAF
V600E
was the most common mutation, especially in older and Hispanic adolescents. A larger, ethnically diverse pediatric cohort followed long term will enable the genotypic variability, clinical presentation, and response to therapy to be better assessed. |
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ISSN: | 1050-7256 1557-9077 |
DOI: | 10.1089/thy.2015.0401 |