2021
DOI: 10.1101/2021.07.23.453235
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Fusion-oncogenes are associated with increased metastatic capacity and persistent disease in pediatric thyroid cancers

Abstract: Background: In 2014, data from a comprehensive multiplatform analysis of 496 adult papillary thyroid cancer samples reported by The Cancer Genome Atlas project suggested that reclassification of thyroid cancer into molecular subtypes, RAS-like and BRAF-like, better reflects clinical behavior than sole reliance on pathological classification. The aim of this study was to categorize the common oncogenic variants in pediatric differentiated thyroid cancer and investigate if mutation subtype classification correla… Show more

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Cited by 2 publications
(3 citation statements)
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“…In contrast with classic and infiltrative follicular variant PTCs, these tumors are commonly associated with NRAS mutations that confer a significantly lower rate of LN metastases. 18,19 Finally, consistent with the histologic features of the PTC-DSV, the lymphatic spread was omnipresent in the PTC-DSVs of our cohort, a finding reflected by the invariable presence of nodal involvement in these cases.…”
Section: Nodal Disease At Presentationsupporting
confidence: 85%
“…In contrast with classic and infiltrative follicular variant PTCs, these tumors are commonly associated with NRAS mutations that confer a significantly lower rate of LN metastases. 18,19 Finally, consistent with the histologic features of the PTC-DSV, the lymphatic spread was omnipresent in the PTC-DSVs of our cohort, a finding reflected by the invariable presence of nodal involvement in these cases.…”
Section: Nodal Disease At Presentationsupporting
confidence: 85%
“…Analysis of the presence of other oncogenic drivers and gene-fusions (e.g., RET/PTC and NTRKfusions) may be considered in Bethesda 3, 4 or 5 due to the fact of increasing awareness that these are also associated with the presence of PTC [65,69]. A shift towards evaluation and management of pediatric DTC using identification of oncogenic drivers and gene-fusions in the diagnostic work-up may be expected because knowledge of these molecular alterations may increase the accuracy of cytology results currently classified as indeterminate [65]. However, the expert panel agreed that the current evidence is not sufficient to incorporate this as a standard of care for all children with thyroid nodules suspicious for DTC.…”
Section: B8 Molecular Testing In Fnb Specimenmentioning
confidence: 99%
“…If there is a significant increase in nodule size or the ultrasound characteristics change over time, (repeated) FNB should be performed. **Analysis of the presence of other oncogenic drivers and gene-fusions (e.g., RET/PTC and NTRK-fusions) may be considered in Bethesda 3, 4 or 5 due to the fact of increasing awareness that these are also associated with the presence of PTC [65]. In case a BRAF V600E mutation is found, the risk of the thyroid nodule being malignant is high, but needs to be confirmed, e.g., by frozen section during thyroid surgery.…”
Section: Suggestion 29mentioning
confidence: 99%