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Identification of Multiple Novel Oncogenic Mutations in Thyroid Cancer
*Susan C Pitt, *Roland A Hernandez, *Matthew A Nehs, *Daniel T Ruan, Atul A Gawande, Francis D Moore, *Nancy L Cho
Brigham and Women's Hospital, Boston, MA

Objective: We sought to characterize oncogenic mutations in human thyroid cancers in order to identify targets for gene therapies that may benefit patients with refractory, advanced disease.
Design: Case series
Setting: Referral center
Patients: Specimens were obtained from 239 consecutive, consenting patients who underwent surgery for diagnosed thyroid cancer between January 2009 and September 2014.
Intervention: The specimens were analyzed with OncoMap-4 or OncoPanel multiplexed assays that detect somatic mutations and variants in exonic DNA structure and copy number. The sequencing surveyed up to 275 cancer genes, and 91 introns across 30 genes for DNA rearrangement.
Main outcome measure: Identification of novel oncogenic mutations (planned prior to data collection)
Results: The 239 thyroid cancers had 351 different mutations detected in 129 oncogenes or tumor suppressors. The 351 mutations occurred in 85% of papillary (PTC), 4% of follicular (FTC), 7% of medullary (MTC), and 4% of anaplastic (ATC) thyroid cancers. Analysis revealed that 17% of the somatic mutations were novel. Three of the altered genes occurred in both PTC and MTC (TET2, CIITA, and RHPN2), and consisted of 10 individual single nucleotide polymorphisms (SNPs). Two other unique mutations were identified in PTC and ATC specimens, EXT1 and EXT2, respectively. Additional novel oncogenic mutations discovered only in PTC specimens included: CBL, AR, BLM, BRD4, EP300, MPL, PRAME, and SBDS, CD274, GSTM5, LMO2, SF1, SUZ12, TNFAIP3, XPO1, ZRSR2, and PARK2.
Conclusions: This analysis reveals that several previously unreported oncogenic mutations exist in thyroid cancers and may be targets for the development of future therapies. In addition, two of the novel oncogenic mutations in the EXT family may play a role in dedifferentiation of PTCs.


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