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Application of genomics to identify therapeutic targets in recurrent pediatric papillary thyroid carcinoma COLD SPRING HARBOR MOLECULAR CASE STUDIES Ronsley, R., Rassekh, S., Shen, Y., Lee, A. F., Jantzen, C., Halparin, J., Albert, C., Hawkins, D. S., Amed, S., Rothstein, R., Mungall, A. J., Dix, D., Blair, G., Nadel, H., Jones, S. M., Laskin, J., Marra, M. A., Deyell, R. J. 2018; 4 (2)

Abstract

Children with papillary thyroid carcinoma (PTC) may relapse despite response to radioactive iodine (RAI). Two children with multiply relapsed PTC underwent whole-genome and transcriptome sequencing. A TPM3-NTRK1 fusion was identified in one tumor, with outlier NTRK1 expression compared to the TCGA thyroid cancer compendium and to Illumina BodyMap normal thyroid. This patient demonstrated resolution of multiple pulmonary nodules without toxicity on oral TRK inhibitor therapy. A RET fusion was identified in the second tumor, another potentially actionable finding. Identification of oncogenic drivers in recurrent pediatric PTC may facilitate targeted therapy while avoiding repeated RAI.

View details for DOI 10.1101/mcs.a002568

View details for Web of Science ID 000450956000013

View details for PubMedID 29610391

View details for PubMedCentralID PMC5880264