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Molecular Testing for Oncogenic Gene Alterations in Pediatric Thyroid Lesions
Sogol Mostoufi-Moab1, Emmanuel Labourier2, Lisa Sullivan3
11 Division of Oncology, The Children's Hospital of Philadelphia , Philadelphia, Pennsylvania.
Thyroid : Official Journal of the American Thyroid Association
|November 8, 2017
Summary
Genetic mutations are common in pediatric thyroid nodules, with specific alterations linked to different tumor types. This analysis supports using molecular testing to guide surgical decisions for pediatric thyroid cancer.
Area of Science:
- Endocrinology
- Oncology
- Molecular Biology
Background:
- Pediatric thyroid nodules are less common than adult nodules.
- The Bethesda System can yield indeterminate diagnoses for thyroid nodules.
- Gene expression classifiers and mutation panels may improve preoperative diagnosis.
Purpose of the Study:
- To assess the prevalence of oncogene alterations in pediatric thyroid tumors.
- To correlate gene mutations with specific thyroid tumor diagnoses in children.
- To evaluate the potential clinical utility of molecular testing in pediatric thyroid nodules.
Main Methods:
- Retrospective analysis of 115 archived pediatric thyroid samples.
- Categorization of samples into benign and various malignant thyroid tumor types.
- Molecular testing using multiplex qualitative polymerase chain reaction and bead array cytometry for 17 oncogenes.
Main Results:
- Mutations were identified in 47% of malignant pediatric thyroid specimens.
- RAS/PAX8/PPARG mutations were found in follicular thyroid carcinoma (FTC) and follicular variant papillary thyroid carcinoma (fvPTC).
- BRAF mutations were most common in classic papillary thyroid carcinoma (cPTC), and RET/PTC in diffuse sclerosing variant PTC (dsvPTC).
Conclusions:
- Specific oncogene alterations correlate with distinct pediatric thyroid tumor subtypes.
- The distribution of gene alterations in pediatric thyroid lesions mirrors that in adults.
- Mutational analysis of pediatric thyroid nodules can inform surgical management.
