4.2 Article

The clinical aspect of NTRK-fusions in pediatric papillary thyroid cancer

Journal

CANCER GENETICS
Volume 262, Issue -, Pages 57-63

Publisher

ELSEVIER SCIENCE INC
DOI: 10.1016/j.cancergen.2022.01.002

Keywords

Pediatric; Adult thyroid cancer; NTRK fusion; Oncogene

Funding

  1. NIH [R01CA21451]
  2. NICHD-NIGMS T32 Fellowship in Pediatric Clinical Pharmacology [T32GM008562]
  3. Children's Hospital of Philadelphia Frontier Program

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Adult and pediatric papillary thyroid cancer (PTC) differ in terms of oncogenic drivers, pathological features, and outcomes. BRAF(V600E) mutations or RAS family mutations are common in adult PTC, while fusion oncogenes involving TK receptors, such as RET and NTRK, are frequently found in pediatric PTC. This study investigated NTRK-driven pediatric PTC cases and compared them to adult NTRK-driven PTC through clinical data review and literature analysis.
Although adult and pediatric papillary thyroid cancer (PTC) share similar oncogenic drivers, they differ in the pathological features and outcomes of the disease. In adults with PTC, the most frequent genetic alterations are mutually exclusive point mutations in BRAF(V600E) or the RAS family with BRAF(V600E) commonly associated with invasive disease and decreased response to radioiodine therapy. In pediatric PTC, fusion oncogenes involving chromosomal translocations in tyrosine kinase (TK) receptors, most commonly RET and NTRK, are often found in patients with lateral neck and distant metastases. This brief report reviews clinical data from a single-institute's cohort of NTRK-driven pediatric PTC cases with an updated review of the literature and comparison to adult NTRK-driven PTC. (C) 2022 Elsevier Inc. All rights reserved.

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