Portal de investigación
Impact of genetic variants in clinical outcome of a cohort of patients with oropharyngeal squamous cell carcinoma
Fecha de publicación:
Fecha Ahead of Print:
Autores organización
Autores
- de Carvalho AC
- Dos Santos W
- Fernandes GC
- de Jesus LM
- Carvalho RS
- Scapulatempo-Neto C
- de Almeida GC
- Sorroche BP
- Arantes LMRB
- Melendez ME
- De Marchi P
- Hayes N
- Reis RM
- Carvalho AL
Grupos de investigación
Resumen
Tobacco- or human papillomavirus- driven oropharyngeal squamous cell carcinomas (OpSCC) represent distinct clinical, biological and epidemiological entities. The aim of this study was to identify genetic variants based on somatic alterations in OpSCC samples from an admixed population, and to test for association with clinical features. The entire coding region of 15 OpSCC driver genes was sequenced by next-generation sequencing in 51 OpSCC FFPE samples. Thirty-five percent of the patients (18/51) were HPV-positive and current or past tobacco consumption was reported in 86.3% (44/51). The mutation profile identified an average of 2.67 variants per sample. Sixty-three percent of patients (32/51; 62.7%) were mutated for at least one of the genes tested and TP53 was the most frequently mutated gene. The presence of mutation in NOTCH1 and PTEN, significantly decreased patient’s recurrence-free survival, but only NOTCH1 mutation remained significant after stepwise selection, with a risk of recurrence of 4.5 (HR 95% CI = 1.11–14.57; Cox Regression p = 0.034). These results show that Brazilian OpSCC patients exhibit a similar clinical and genetic profile in comparison to other populations. Molecular characterization is a promising tool for the definition of clinical subgroups, aiding in a more precise tailoring of treatment and prognostication. © 2020, The Author(s).
Datos de la publicación
- ISSN/ISSNe:
- 2045-2322, 2045-2322
- Tipo:
- Article
- Páginas:
- 9970-9970
- Enlace a otro recurso:
- www.scopus.com
Scientific Reports Nature Research
Citas Recibidas en Web of Science: 5
Citas Recibidas en Scopus: 8
Documentos
- No hay documentos
Filiaciones
Keywords
- Adult; Aged; Carcinoma, Squamous Cell; Cohort Studies; Disease-Free Survival; Female; High-Throughput Nucleotide Sequencing; Humans; Male; Middle Aged; Mutation; Neoplasm Recurrence, Local; Oropharyngeal Neoplasms; Papillomaviridae; Papillomavirus Infections; Tobacco; adult; adverse event; aged; cohort analysis; disease free survival; female; genetics; high throughput sequencing; human; male; middle aged; mutation; oropharynx tumor; Papillomaviridae; papillomavirus infection; pathogenicity; procedures; squamous cell carcinoma; tobacco; tumor recurrence; virology
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Citar la publicación
de Carvalho AC,Perdomo S,Dos W,Fernandes GC,de Jesus LM,Carvalho RS,Scapulatempo C,de Almeida GC,Sorroche BP,Arantes LMRB,Melendez ME,De Marchi P,Hayes N,Reis RM,Carvalho AL. Impact of genetic variants in clinical outcome of a cohort of patients with oropharyngeal squamous cell carcinoma. Sci Rep. 2020. 10. (1):p. 9970-9970. IF:4,379. (1).