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Article: Genomic and transcriptomic analyses of thyroid cancers identify DICER1 somatic mutations in adult follicular-patterned RAS-like tumors.

Minna, Emanuela / Devecchi, Andrea / Pistore, Federico / Paolini, Biagio / Mauro, Giuseppe / Penso, Donata Alda / Pagliardini, Sonia / Busico, Adele / Pruneri, Giancarlo / De Cecco, Loris / Borrello, Maria Grazia / Sensi, Marialuisa / Greco, Angela

Frontiers in endocrinology

2023  Volume 14, Page(s) 1267499

Abstract: Background: Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer (TC). Several genomic and transcriptomic studies explored the molecular landscape of follicular cell-derived TCs, and : Methods: Here, we report the molecular ... ...

Abstract Background: Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer (TC). Several genomic and transcriptomic studies explored the molecular landscape of follicular cell-derived TCs, and
Methods: Here, we report the molecular characterization of 30 retrospective follicular cell-derived thyroid tumors, comprising PTCs (90%) and poorly differentiated TCs (10%), collected at our Institute. We performed DNA whole-exome sequencing using patient-matched control for somatic mutation calling, and targeted RNA-seq for gene fusion detection. Transcriptional profiles established in the same cohort by microarray were investigated using three signaling-related gene signatures derived from The Cancer Genome Atlas (TCGA).
Results: The occurrence of
Conclusion: Even though small, our series recapitulates the genetic background of PTC. Furthermore, we identified
MeSH term(s) Humans ; Adult ; Transcriptome ; Retrospective Studies ; Protein-Tyrosine Kinases ; Proto-Oncogene Proteins/genetics ; Thyroid Neoplasms/genetics ; Thyroid Neoplasms/pathology ; Thyroid Cancer, Papillary/genetics ; Thyroid Cancer, Papillary/pathology ; Mutation ; Genomics ; Ribonuclease III/genetics ; DEAD-box RNA Helicases/genetics
Chemical Substances Protein-Tyrosine Kinases (EC 2.7.10.1) ; Proto-Oncogene Proteins ; DICER1 protein, human (EC 3.1.26.3) ; Ribonuclease III (EC 3.1.26.3) ; DEAD-box RNA Helicases (EC 3.6.4.13)
Language English
Publishing date 2023-10-05
Publishing country Switzerland
Document type Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID 2592084-4
ISSN 1664-2392
ISSN 1664-2392
DOI 10.3389/fendo.2023.1267499
Database MEDical Literature Analysis and Retrieval System OnLINE

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