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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Impact of genetic variants in clinical outcome of a cohort of patients with oropharyngeal squamous cell carcinoma

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de Carvalho, Ana Carolina [1] ; Perdomo, Sandra [2, 3] ; dos Santos, Wellington [1] ; Fernandes, Gabriela Carvalho [4] ; de Jesus, Lais Machado [1] ; Carvalho, Raiany Santos [5] ; Scapulatempo-Neto, Cristovam [1, 6] ; de Almeida, Gisele Caravina [5] ; Sorroche, Bruna Pereira [1] ; Batista Arantes, Lidia Maria Rebolho [1] ; Melendez, Matias Eliseo [1, 7, 8] ; De Marchi, Pedro [9, 10] ; Hayes, Neil [11] ; Reis, Rui Manuel [12, 1, 13] ; Carvalho, Andre Lopes [1, 2]
Total Authors: 15
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[1] Barretos Canc Hosp, Mol Oncol Res Ctr, Barretos, SP - Brazil
[2] Int Agcy Res Canc, Lyon - France
[3] Univ El Bosque, Fac Med, Inst Nutr Genet & Metab Res, Bogota - Colombia
[4] Barretos Canc Hosp, Ctr Mol Diag, Barretos, SP - Brazil
[5] Barretos Canc Hosp, Res Support Ctr, Barretos, SP - Brazil
[6] Diagnost Amer DASA, Pathol & Mol Diagnost Serv, Sao Paulo, SP - Brazil
[7] Pele Little Prince Res Inst, Curitiba, Parana - Brazil
[8] Little Prince Coll, Curitiba, Parana - Brazil
[9] Barretos Canc Hosp, Dept Med Oncol, Barretos, SP - Brazil
[10] Oncoclinicas, Rio De Janeiro, RJ - Brazil
[11] Univ Tennessee, Hlth Sci Ctr, UTHSC Ctr Canc Res, Dept Med, Div Oncol, Memphis, TN - USA
[12] ICVS 3Bs PT Govt Associate Lab, Braga - Portugal
[13] Univ Minho, Med Sch, Life & Hlth Sci Res Inst ICVS, Braga - Portugal
Total Affiliations: 13
Document type: Journal article
Source: SCIENTIFIC REPORTS; v. 10, n. 1 JUN 19 2020.
Web of Science Citations: 0

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. (AU)

FAPESP's process: 15/01286-0 - Characterization of genetic and epigenetic alterations in specific genes in HPV-positive and HPV-negative tumors of patients with head and neck squamous cell carcinoma
Grantee:André Lopes Carvalho
Support type: Regular Research Grants