Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma.
Journal
Translational oncology
ISSN: 1936-5233
Titre abrégé: Transl Oncol
Pays: United States
ID NLM: 101472619
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
received:
25
11
2019
accepted:
02
04
2020
pubmed:
19
5
2020
medline:
19
5
2020
entrez:
19
5
2020
Statut:
ppublish
Résumé
Anal squamous cell carcinoma (ASCC) is a rare neoplasm. Chemoradiotherapy is the standard of care, with no therapeutic advances achieved over the past three decades. Thus, a deeper molecular characterization of this disease is still necessary. We analyzed 46 paraffin-embedded tumor samples from patients diagnosed with primary ASCC by exome sequencing. A bioinformatics approach focused in the identification of high-impact genetic variants, which may act as drivers of oncogenesis, was performed. The relation between genetics variants and prognosis was also studied. The list of high-impact genetic variants was unique for each patient. However, the pathways in which these genes are involved are well-known hallmarks of cancer, such as angiogenesis or immune pathways. Additionally, we determined that genetic variants in BRCA2, ZNF750, FAM208B, ZNF599, and ZC3H13 genes are related with poor disease-free survival in ASCC. This may help to stratify the patient's prognosis and open new avenues for potential therapeutic intervention. In conclusion, sequencing of ASCC clinical samples appears an encouraging tool for the molecular portrait of this disease.
Identifiants
pubmed: 32422573
pii: S1936-5233(19)30674-6
doi: 10.1016/j.tranon.2020.100778
pmc: PMC7229291
pii:
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100778Informations de copyright
Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved.
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