Molecular Characterization of Sporadic Pediatric Thyroid Carcinoma with the DNA/RNA ThyroSeq v2 Next-Generation Sequencing Assay

• DOI: 10.2350/15-07-1667-oa.1
• Publication Date: 2015-09-14T22:22:56Z
• Authors: Jennifer L. Picarsic; Melissa A. Buryk; John Ozolek; Sarangarajan Rang...; Sara E. Monaco; Jeffrey P. Simons; Selma F. Witchel; Nursen Gurtunca; Judith Joyce; Shan Zhong; Marina N. Nikiforova; Yuri E. Nikiforov
• Keywords: HRAS; PAX8; ETV6; Molecular diagnostics; Molecular Genetics; Molecular Pathology

The aim of this study was to test the hypothesis that our 60-gene DNA/RNA ThyroSeq v2 next-generation sequence (NGS) assay would identify additional genetic markers, including gene fusions in sporadic pediatric differentiated thyroid carcinomas (DTC) had no known molecular alterations. Sporadic DTCs with informative testing ( n = 18) were studied. We previously tested 15 cases by standard 7-gene BRAF, NRAS, HRAS, KRAS, RET/PTC1, RET/PTC3, PAX8/PPARg) mutation panel. Three not previously. panel identified alterations 9 tumors (60%). Cases analyzed NGS included six negative and three tested. revealed new four (67%). These ETV6/NTRK3 3) TPR/NTRK1 1). A point BRAF-V600E) detected one untested cases. While could only 60% cases, addition NGS, increased 87% 13/15). Some chromosomal rearrangements, ETV6/NTRK3, appear be associated an aggressive histopathologic phenotype, but documented history radiation exposure. Additional work is needed investigate if benefit from a reclassification based on subtypes, which may better reflect their underlying biologic potential. Our data support use broad panels for diagnostics nodules aid future classification, treatment, clinical management recommendations.