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Ronsley, Rebecca; Rassekh, S Rod; Shen, Yaoqing; Lee, Anna F; Jantzen, Colleen; Halparin, Jessica; Albert, Catherine; Hawkins, Douglas S; Amed, Shazhan; Rothstein, Ralph; Mungall, Andrew J; Dix, David; Blair, Geoffrey; Nadel, Helen; Jones, Steven J M; Laskin, Janessa; Marra, Marco A; J Deyell, Rebecca
Cold Spring Harbor molecular case studies, 04/2018, Letnik: 4, Številka: 2Journal Article
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 fusion was identified in one tumor, with outlier 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 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.
