ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2022) 19 3.14 | DOI: 10.1530/ey.19.3.14

ESPEYB19 3. Thyroid Paediatric thyroid cancer (3 abstracts)

3.14. Fusion oncogenes are associated with increased metastatic capacity and persistent disease in pediatric thyroid cancers

Franco AT , Ricarte-Filho JC , Isaza A , Jones Z , Jain N , Mostoufi-Moab S , Surrey L , Laetsch TW , Li MM , DeHart JC , Reichenberger E , Taylor D , Kazahaya K , Adzick NS & Bauer AJ



J Clin Oncol. 2022 Apr 1;40(10):1081-1090. doi: 10.1200/JCO.21.01861. Epub 2022 Jan 11. PMID: 35015563

Brief Summary: This retrospective monocenter study of clinical, pathological and molecular analysis of n=113 children with differentiated thyroid cancer (DTC) showed that genetic analysis of DTC provided more accurate information on prognosis and outcome than classical histological categorization alone. Larger tumors and higher metastasis rate were observed in patients with fusion oncogene DCT than in patients with BRAF mutations.

In analogy to the previous paper (3.13) in this chapter [1], the authors analyzed tumor biology in the context of molecular analysis in children with DTC. They showed differences between patients with BRAF mutations vs. fusion oncogenes for 1) lymph node metastases (17% vs. 60%), distant metastases (0% vs. 17%), and persistent disease at 1 year of follow-up (17% vs. 36%). Further, they showed that 91% of patients age < 10 years carried fusion events, while the prevalence of BRAF mutations increased in patients between 10-20 years.

In summary, these results are in accordance with the data in the previous paper in this chapter stressing the importance of systematic molecular analysis in pediatric patients with DTC for better prediction of tumor biology and prognosis, and possible fusion oncogene targeted therapies. For this, prospective larger studies are planned, and their results eagerly awaited.

Reference: 1. NTRK and RET fusion-directed therapy in pediatric thyroid cancer yields a tumor response and radioiodine uptake. Lee YA, Lee H, Im SW, Song YS, Oh DY, Kang HJ, Won JK, Jung KC, Kwon D, Chung EJ, Hah JH, Paeng JC, Kim JH, Choi J, Kim OH, Oh JM, Ahn BC, Wirth LJ, Shin CH, Kim JI, Park YJ. J Clin Invest. 2021 Sep 15;131(18):e144847. doi: 10.1172/JCI144847. PMID: 34237031.

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