Gene Fusions in Thyroid Cancer

Yakushina, V. D.; Лернер, Л.В.; Лавров, А. В.

doi:10.1089/thy.2017.0318

Cited by 100 publications

(80 citation statements)

References 93 publications

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“…RET gene fusions lead to kinase activation, in turn augmenting signal transduction along classical pathways such as the MAPK and the PI3K/AKT ones [4,5,80]. This causes gain of RET oncogenic activity, as shown for the most frequent fusions (CCDC6-RET, NCOA4-RET, KIF5B-RET) using cell-based assays as well as constitutive or conditional transgenic mouse models [28,29,50,51,[81][82][83][84].…”

Section: Functional Consequence Of Ret Gene Fusionsmentioning

confidence: 99%

“…The most common RET fusions in PTC are CCDC6-RET (also named RET/PTC1) and NCOA4-RET (also named RET/PTC3), accounting for about 90% of RET fusion-positive cases [80]. CCDC6 (coiled-coil domain containing 6) was formerly known as H4 or D10S170 and NCOA4 (nuclear coactivator 4) was formerly known as ELE1, RFG, or ARA70 (Table 1).…”

Section: Ret Gene Fusions In Thyroid Carcinomamentioning

confidence: 99%

“…RET fusions are uncommon in thyroid cancer subtypes other than PTC [104]. FTC (follicular thyroid carcinoma), the other major type of differentiated thyroid cancer, is generally negative for RET fusions [80]. PDTC (poorly differentiated thyroid carcinoma) and ATC (anaplastic thyroid carcinoma) may derive from pre-existing differentiated carcinomas, including PTC.…”

Section: Ret Gene Fusions In Thyroid Carcinomamentioning

confidence: 99%

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RET Gene Fusions in Malignancies of the Thyroid and Other Tissues

Santoro

Moccia

Federico

et al. 2020

Genes

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Following the identification of the BCR-ABL1 (Breakpoint Cluster Region-ABelson murine Leukemia) fusion in chronic myelogenous leukemia, gene fusions generating chimeric oncoproteins have been recognized as common genomic structural variations in human malignancies. This is, in particular, a frequent mechanism in the oncogenic conversion of protein kinases. Gene fusion was the first mechanism identified for the oncogenic activation of the receptor tyrosine kinase RET (REarranged during Transfection), initially discovered in papillary thyroid carcinoma (PTC). More recently, the advent of highly sensitive massive parallel (next generation sequencing, NGS) sequencing of tumor DNA or cell-free (cfDNA) circulating tumor DNA, allowed for the detection of RET fusions in many other solid and hematopoietic malignancies. This review summarizes the role of RET fusions in the pathogenesis of human cancer.

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Section: Functional Consequence Of Ret Gene Fusionsmentioning

confidence: 99%

Section: Ret Gene Fusions In Thyroid Carcinomamentioning

confidence: 99%

Section: Ret Gene Fusions In Thyroid Carcinomamentioning

confidence: 99%

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RET Gene Fusions in Malignancies of the Thyroid and Other Tissues

Santoro

Moccia

Federico

et al. 2020

Genes

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“…Within the category of differentiated thyroid carcinoma, papillary thyroid carcinoma (PTC) is represented with a frequency of 80-85% [4] . In sporadic PTC, oncogenic fusions are present in 4-46%, involving RET, BRAF, NTRK1, NTRK3, ALK, PPARG and THADA [5][6][7][8][9] . Most gene fusions in PTC involve the RET ("rearranged during transfection") gene [5,[10][11][12] .…”

Section: Introductionmentioning

confidence: 99%

“…In PTC, RET fusion genes received the acronym RET/PTC, which were numbered consecutively [24] . Nowadays, due to the multiplicity of RET/PTC rearrangements, numerous authors prefer a nomenclature according to the genes involved [5] . 19 oncogenic RET rearrangements in PTC have yet been described, involving AFAP1L2, AKAP13, CCDC6, ERC1, FKBP15, GOLGA5, HOOK3, KTN1, NCOA4, PCM1, PPFIBP2, PRKAR1A, RFG9, SPECC1L, TBL1XR, TRIM24, TRIM27, TRIM33 and UEVLD [5,25,26] .…”

Section: Introductionmentioning

confidence: 99%

Novel rearrangements involving the RET gene in papillary thyroid carcinoma

et al. 2019

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Diagnosis and Management of Tropomyosin Receptor Kinase Fusion-Positive Thyroid Carcinomas

et al. 2023

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ImportanceThyroid epithelial malignant neoplasms include differentiated thyroid carcinomas (papillary, follicular, and oncocytic), follicular-derived high-grade thyroid carcinomas, and anaplastic and medullary thyroid carcinomas, with additional rarer subtypes. The discovery of neurotrophic tyrosine receptor kinase (NTRK) gene fusions has fostered developments in precision oncology, with the approval of tropomyosin receptor kinase inhibitors (larotrectinib and entrectinib) for patients with solid tumors, including advanced thyroid carcinomas, harboring NTRK gene fusions.ObservationsThe relative rarity and diagnostic complexity of NTRK gene fusion events in thyroid carcinoma present several challenges for clinicians, including variable access to robust methodologies for comprehensive NTRK fusion testing and poorly defined algorithms of when to test for such molecular alterations. To address these issues in thyroid carcinoma, 3 consensus meetings of expert oncologists and pathologists were convened to discuss diagnostic challenges and propose a rational diagnostic algorithm. Per the proposed diagnostic algorithm, NTRK gene fusion testing should be considered as part of the initial workup for patients with unresectable, advanced, or high-risk disease as well as following the development of radioiodine-refractory or metastatic disease; testing by DNA or RNA next-generation sequencing is recommended. Detecting the presence of NTRK gene fusions is important to identify patients eligible to receive tropomyosin receptor kinase inhibitor therapy.Conclusions and RelevanceThis review provides practical guidance for optimal integration of gene fusion testing, including NTRK gene fusion testing, to inform the clinical management in patients with thyroid carcinoma.

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Gene Fusions in Thyroid Cancer

Abstract: The prognostic value and perspectives of the utilization of gene fusions as therapeutic targets are discussed.

Cited by 100 publications

References 93 publications

RET Gene Fusions in Malignancies of the Thyroid and Other Tissues

RET Gene Fusions in Malignancies of the Thyroid and Other Tissues

Novel rearrangements involving the RET gene in papillary thyroid carcinoma

Diagnosis and Management of Tropomyosin Receptor Kinase Fusion-Positive Thyroid Carcinomas

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