Portal de investigação
Analyzing the Role of DICER1 Germline Variations in Papillary Thyroid Carcinoma
Data de publicação:
Autores da FMUP
Participantes de fora da FMUP
- Canberk, S
- Ferreira, JC
- Pereira, L
- Batista, R
- Vieira, AF
- Simoes, MS
Unidades de investigação
Abstract
Introduction: DICER1 is a member of RNase III family that has a pivotal role in the biogenesis of microRNAs, being important for normal development. Dysregulation of DICER1 has been described in different human tumours; however, there is insufficient data on the risk of thyroid cancer in the presence of germline DICER1 variants, particularly when focusing on the background of papillary thyroid carcinoma (PTC). For this purpose, we ascertained the presence of DICER1 variants in 502 (PTC) cases available from The Cancer Genome Atlas (TCGA) research network in a well-characterized pathological context. Material and Methods: in this study we analyzed 502 samples from 502 patients, described as PTC in the TCGA database. Tumour diagnoses were re-evaluated by 2 pathologists (S.C. and M.S.-S.) on slides available from the database, and clinicopathological and demographic data was examined. Data concerning germline and sporadic DICER1 gene variants as well as frequent mutations in the genes involved in thyroid carcinogenesis (e.g., RAS and BRAFV600E) was retrieved from the database. Results and Discussion: We report 1 new germline possibly pathogenic variant, besides 15 others already been identified in ClinVar. We found that the DICER1-positive PTC group more frequently includes PTC variants, namely the oncocytic, follicular, and aggressive (hobnail variant of PTC) variants. A previous association of DICER1 had been demonstrated, mainly with the follicular variant of PTC and follicular thyroid carcinomas. Tumours harbouring germline DICER1 mutations were more frequently "bilateral" and "encapsulated." The frequent association of DICER1 germline variants with other mutations associated with thyroid cancer can reflect an haploinsufficiency tumour suppressor gene function of DICER1, as suggested from the study of animal models.
Dados da publicação
- ISSN/ISSNe:
- 2235-0640, 2235-0802
- Tipo:
- Article
- Páginas:
- 296-303
- DOI:
- 10.1159/000509183
- Link para outro recurso:
- www.scopus.com
European Thyroid Journal S. Karger AG
Citações Recebidas na Web of Science: 11
Citações Recebidas na Scopus: 14
Documentos
- Não há documentos
Filiações
Keywords
- DICER1; Papillary thyroid carcinoma; Germline variants; Somatic mutation; Thyroid; Paediatric thyroid nodules; Syndromic thyroid disease; Familial thyroid disease
Proyectos asociados
Mitochondrial complex II genetic characterization and enzymatic expression profile in tumours of the adrenal cortex and medulla
Investigador Principal: Valdemar de Jesus Conde Máximo
Estudo Clínico Académico (Mitochondrial) . 2020
Citar a publicação
Canberk S,Ferreira JC,Pereira L,Batista R,Vieira AF,Soares Dias Ferreira A,Simoes MS,Máximo V. Analyzing the Role of DICER1 Germline Variations in Papillary Thyroid Carcinoma. Eur. Thyroid J. 2021. 9. (6):p. 296-303. IF:4,084. (2).
