New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma. (Articolo in rivista)

Type
Label
  • New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma. (Articolo in rivista) (literal)
Anno
  • 2015-01-01T00:00:00+01:00 (literal)
Alternative label
  • Costa V1, Esposito R1, Ziviello C1, Sepe R2, Bim LV2, Cacciola NA2, Decaussin-Petrucci M3, Pallante P2, Fusco A2,4, Ciccodicola A1,5. (2015)
    New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma.
    in Oncotarget
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Costa V1, Esposito R1, Ziviello C1, Sepe R2, Bim LV2, Cacciola NA2, Decaussin-Petrucci M3, Pallante P2, Fusco A2,4, Ciccodicola A1,5. (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1Institute of Genetics and Biophysics \"Adriano Buzzati-Traverso\", CNR, Naples, Italy. 2Istituto 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. 3Department of Pathology, Lyon Sud Hospital Center, Hospices Civils de Lyon, Pierre-Bénite, Lyon, France. 4Instituto Nacional de Câncer - INCA, Praça da Cruz Vermelha, Rio de Janeiro, RJ, Brazil. 5Department of Science and Technology, University \"Parthenope\" of Naples, Italy. Abstract (literal)
Titolo
  • New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma. (literal)
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. (literal)
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