Journal
Cold Spring Harbor Molecular Case Studies, 2018
Authors
Rebecca Ronsley, S. Rod Rassekh, Yaoqing Shen, Anna F. Lee, Colleen Jantzen, Jessica Halparin, Catherine Albert, Douglas S. Hawkins, Shazhan Amed, Ralph Rothstein, Andrew J. Mungall, David Dix, Geoffrey Blair, Helen Nadel, Steven J.M. Jones, Janessa Laskin, Marco A. Marra and Rebecca J. Deyell

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.

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