Cold Spring Harbor molecular case studies, volume 4, issue 2, pages a002568
Application of genomics to identify therapeutic targets in recurrent pediatric papillary thyroid carcinoma
Rebecca Ronsley
1
,
S. Rod Rassekh
2
,
Yaoqing Shen
3
,
Anna Lee
4
,
Colleen Jantzen
5
,
Jessica Halparin
5
,
Catherine M. Albert
6
,
D A Hawkins
6
,
Shazhan Amed
1
,
Ralph Rothstein
1
,
Andrew J. Mungall
3
,
David Dix
5
,
Geoffrey Blair
7
,
Helen Nadel
8
,
Steve M. R. Jones
3
,
Janessa Laskin
9
,
M. Marra
10
,
Rebecca Deyell
2
3
Canada's Michael Smith Genome Science Centre, British Columbia Cancer, Vancouver, British Columbia V5Z 4S6, Canada.
|
7
9
British Columbia Cancer, Vancouver, British Columbia V5Z 4S6, Canada.
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Publication type: Journal Article
Publication date: 2018-04-02
scimago Q2
SJR: 0.801
CiteScore: 3.2
Impact factor: 1.8
ISSN: 23732873, 23732865
General Medicine
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.
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