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Published on: August 23, 2019
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miRNA expression can classify pediatric thyroid lesions and increases the diagnostic yield of mutation testing
Aime T Franco1, Emmanuel Labourier2, Kenny Kwabena Ablordeppey3
1Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Pediatric Blood & Cancer
|March 21, 2020
Summary
MicroRNA (miRNA) biomarkers show high specificity in identifying malignant pediatric thyroid lesions. Combining miRNA expression with oncogene mutation testing improves diagnostic accuracy for thyroid nodules.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Thyroid cancer involves genetic alterations in cell signaling pathways.
- Oncogene mutation testing and gene-expression profiling aid adult thyroid nodule risk management.
- Pediatric thyroid lesion classification needs improved diagnostic tools.
Purpose of the Study:
- To evaluate microRNA (miRNA) biomarkers for classifying pediatric thyroid lesions.
- To compare miRNA expression with oncogene mutations in pediatric thyroid tumors.
- To assess the diagnostic performance of miRNA classifiers.
Main Methods:
- A double-blind case-control study of 113 resected pediatric thyroid lesions (66 malignant, 47 benign).
- Utilized a 10-miRNA expression panel (ThyraMIR) and a next-generation sequencing oncogene panel (ThyGeNEXT).
- Compared molecular data with clinicopathological parameters.
Main Results:
- miRNAs were differentially expressed in benign versus malignant tumors.
- The 10-miRNA classifier achieved 100% specificity for malignant lesions.
- Combined molecular testing showed 70% sensitivity and 96% specificity (AUC 0.924).
Conclusions:
- Regulatory miRNA pathways in pediatric thyroid tumorigenesis resemble those in adults.
- miRNA expression effectively identifies malignant lesions and improves diagnostic yield.
- miRNA biomarkers enhance the molecular classification of pediatric thyroid nodules.
