Evidence map›Paper›PMID 40972435›Full record

ArticleOral oncology2025

Characterizing the mutational landscape of sinonasal squamous cell carcinoma using whole-exome sequencing.

Jimmy A Vareta, Xiang Zhang, Damaris Kuhnell, Matthew C Hagen, Vinita Takiar, Trisha M Wise-Draper, Keith A Casper, Princess Rodriguez-Ramirez, Julie A Dragon, Scott M Langevin

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Oral oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Jimmy A VaretaDivision of Hematology & Oncology, University of Vermont Larner College of Medicine, Burlington, VT, United States; University of Vermont Cancer Center, Burlington, VT, United States.
Xiang ZhangDepartment of Environmental & Public Health Sciences, University of Cincinnati College of Medicine, Cincinnati, OH, United States; University of Cincinnati Cancer Center, Cincinnati, OH, United States.
Damaris KuhnellDepartment of Environmental & Public Health Sciences, University of Cincinnati College of Medicine, Cincinnati, OH, United States.
Matthew C HagenDepartment of Pathology & Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH, United States.
Vinita TakiarUniversity of Cincinnati Cancer Center, Cincinnati, OH, United States; Department of Radiation Oncology, University of Cincinnati College of Medicine, Cincinnati, OH, United States.
Trisha M Wise-DraperUniversity of Cincinnati Cancer Center, Cincinnati, OH, United States; Division of Hematology & Oncology, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, OH, United States.
Keith A CasperDepartment of Otolaryngology - Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States.
Princess Rodriguez-RamirezUniversity of Vermont Cancer Center, Burlington, VT, United States; Department of Microbiology and Molecular Genetics, University of Vermont Larner College of Medicine, Burlington, VT, United States.
Julie A DragonUniversity of Vermont Cancer Center, Burlington, VT, United States; Department of Microbiology and Molecular Genetics, University of Vermont Larner College of Medicine, Burlington, VT, United States.
Scott M LangevinDivision of Hematology & Oncology, University of Vermont Larner College of Medicine, Burlington, VT, United States; University of Vermont Cancer Center, Burlington, VT, United States. Electronic address: scott.langevin@med.uvm.edu.

Funding

REPRODUCTIVE AND DEVELOPMENTAL TOXICOLOGY RESEARCHP30ES006096 · NIEHS · UNIVERSITY OF CINCINNATI · PI PINNEY, SUSAN MENGEL · 1992 to 2022
$35.4M
Exosomal miRNA as Salivary Biomarkers for HPV+ Head and Neck CarcinomaR21DE027227 · NIDCR · UNIVERSITY OF CINCINNATI · PI LANGEVIN, SCOTT M. · 2017 to 2018
$439k
Epigenetic alterations in oral rinse as biomarkers of oral and pharyngeal cancerK22CA172358 · NCI · UNIVERSITY OF CINCINNATI · PI LANGEVIN, SCOTT M. · 2013 to 2015
$312k
NCI NIH HHS K22 CA172358NIDCR NIH HHS R21 DE027227NIEHS NIH HHS P30 ES006096
6 · The paper itself

Abstract

backgroundSinonasal squamous cell carcinoma (SNSCC) accounts for less than 3% of all head and neck cancers. The 5-year overall survival rate ranges from 30 to 50%. While whole-exome sequencing (WES) studies have illuminated the mutational landscape of numerous cancer types, few systematic efforts have been conducted for SNSCC, leaving many common driver mutations in this malignancy largely unknown. The objective of this study was to address this gap in knowledge by comprehensively cataloging somatic mutations arising in SNSCC through WES. PATIENTS AND

methodsThis was a retrospective study in which WES was performed on OCT-embedded tumor tissue and paired adjacent normal tissue from 12 patients diagnosed with incident SNSCC at the University of Cincinnati Cancer Center from 2012 to 2014.

resultsWe identified 263 genes that harbored two or more coding region somatic mutations in multiple SNSCC tumors. Eight genes were significantly mutated (q < 0.1). TP53 was the most frequently mutated gene (6/12; 50 %). The other 7 significantly mutated genes included NOTCH1 (4/12; 33.3 %), KMT2D (4/12; 33 %), VWDE (4/12; 33 %), FNBP4 (3/12; 25 %), SCAND3 (3/12; 25 %), NOD1 (3/12; 25 %) and OR5C1 (2/12; 17 %). Somatic mutations observed in these genes included truncating or non-synonymous variants in functional domains that may affect regulation of apoptosis, NOTCH signaling, cell cycle, and epithelial cell proliferation, and epigenetic regulation of gene expression.

conclusionThis study helps elucidate the mutational landscape of SNSCC, advancing our understanding of potential driver mutations and yielding potential new therapeutic avenues for management of these devastating malignancies.

Indexed as

Carcinoma, Squamous CellExome SequencingMutationParanasal Sinus NeoplasmsAdultAgedAged, 80 and overFemaleHumansMaleMiddle AgedRetrospective StudiesHead and neck cancerNasalParanasalSinusSomatic mutationsWhole-exome sequencing

Identifiers

PMID40972435
PMCPMC12690484

What Socratic holds

Textmetadata
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.