Evidence map›Paper›PMID 25803323›Full record

ArticleOncotarget2015

New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma.

Valerio Costa, Roberta Esposito, Carmela Ziviello, Romina Sepe, Larissa Valdemarin Bim, Nunzio Antonio Cacciola, Myriam Decaussin-Petrucci, Pierlorenzo Pallante, Alfredo Fusco, Alfredo Ciccodicola

Open access · diamondAbstract readValidation Study
In one paragraph

Article in Oncotarget, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed, 1 pooled it
5.4field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

43 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.

  1. Pooled it
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  17. WNK1 in Malignant Behaviors: A Potential Target for Cancer?Frontiers in cell and developmental biology · 2022
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 4 institutions in 3 countries.

Valerio CostaInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso", CNR, Naples, Italy.
Roberta EspositoInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso", CNR, Naples, Italy.
Carmela ZivielloInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso", CNR, Naples, Italy.
Romina SepeIstituto per l'Endocrinologia e l'Oncologia Sperimentale (IEOS), Consiglio Nazionale delle Ricerche (CNR), c/o Dipartimento di Medicina Molecolare e Biotecnologie Mediche (DMMBM), Università degli Studi di Napoli "Federico II", Naples, Italy.
Larissa Valdemarin BimIstituto per l'Endocrinologia e l'Oncologia Sperimentale (IEOS), Consiglio Nazionale delle Ricerche (CNR), c/o Dipartimento di Medicina Molecolare e Biotecnologie Mediche (DMMBM), Università degli Studi di Napoli "Federico II", Naples, Italy.
Nunzio Antonio CacciolaIstituto per l'Endocrinologia e l'Oncologia Sperimentale (IEOS), Consiglio Nazionale delle Ricerche (CNR), c/o Dipartimento di Medicina Molecolare e Biotecnologie Mediche (DMMBM), Università degli Studi di Napoli "Federico II", Naples, Italy.
Myriam Decaussin-PetrucciDepartment of Pathology, Lyon Sud Hospital Center, Hospices Civils de Lyon, Pierre-Bénite, Lyon, France.
Pierlorenzo PallanteIstituto per l'Endocrinologia e l'Oncologia Sperimentale (IEOS), Consiglio Nazionale delle Ricerche (CNR), c/o Dipartimento di Medicina Molecolare e Biotecnologie Mediche (DMMBM), Università degli Studi di Napoli "Federico II", Naples, Italy.
Alfredo FuscoIstituto per l'Endocrinologia e l'Oncologia Sperimentale (IEOS), Consiglio Nazionale delle Ricerche (CNR), c/o Dipartimento di Medicina Molecolare e Biotecnologie Mediche (DMMBM), Università degli Studi di Napoli "Federico II", Naples, Italy.
Alfredo CiccodicolaInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso", CNR, Naples, Italy.
Institute of Genetics and Biophysics · ITUniversity of Naples Federico II · ITInstitute for Experimental Endocrinology and Oncology · ITHospices Civils de Lyon · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Papillary thyroid carcinoma (PTC) is the most frequent thyroid malignant neoplasia. Oncogene activation occurs in more than 70% of the cases. Indeed, about 40% of PTCs harbor mutations in BRAF gene, whereas RET rearrangements (RET/PTC oncogenes) are present in about 20% of cases. Finally, RAS mutations and TRK rearrangements account for about 5% each of these malignancies. We used RNA-Sequencing to identify fusion transcripts and mutations in cancer driver genes in a cohort of 18 PTC patients. Furthermore, we used targeted DNA sequencing to validate identified mutations. We extended the screening to 50 PTC patients and 30 healthy individuals. Using this approach we identified new missense mutations in CBL, NOTCH1, PIK3R4 and SMARCA4 genes. We found somatic mutations in DICER1, MET and VHL genes, previously found mutated in other tumors, but not described in PTC. We identified a new chimeric transcript generated by the fusion of WNK1 and B4GALNT3 genes, correlated with B4GALNT3 overexpression. Our data confirmed PTC genetic heterogeneity, revealing that gene expression correlates more with the mutation pattern than with tumor staging. Overall, this study provides new data about mutational landscape of this neoplasia, suggesting potential pharmacological adjuvant therapies against Notch signaling and chromatin remodeling enzymes.

Indexed as

Gene FusionMutation, MissenseBiomarkers, TumorCarcinomaCarcinoma, PapillaryCase-Control StudiesDNA HelicasesDNA Mutational AnalysisGene Expression Regulation, EnzymologicGene Expression Regulation, NeoplasticGenetic Association StudiesGenetic Predisposition to DiseaseHumansIntracellular Signaling Peptides and ProteinsMinor Histocompatibility AntigensN-AcetylgalactosaminyltransferasesB4GALNT3 protein, humanBiomarkers, TumorCBL protein, humanDNA HelicasesIntracellular Signaling Peptides and ProteinsMinor Histocompatibility AntigensN-AcetylgalactosaminyltransferasesNOTCH1 protein, humanNuclear ProteinsPIK3R4 protein, humanProtein Serine-Threonine KinasesProto-Oncogene Proteins c-cblReceptor, Notch1SMARCA4 protein, humanTranscription FactorsVacuolar Sorting Protein VPS15WNK1 protein, humanWNK Lysine-Deficient Protein Kinase 1gene fusionsmutationspapillary carcinomasRNA-sequencingthyroid

Identifiers

PMID25803323
PMCPMC4484453
OpenAlexW2164561289

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.