Evidence map›Paper›PMID 40404793›Full record

ArticleScientific reports2025

In silico evaluation of the immunogenic profile of lung cancers with SMARCA4 genetic alterations.

Cristina Nieto-Jiménez, Esther Garcia-Lorenzo, Cristina Diaz-Tejeiro, Lucía Paniagua-Herranz, Adrián Sanvicente, Bernard Doger, Irene Moreno, Manuel Pedregal, Jorge Bartolomé, Arancha Manzano and 6 more

Abstract read
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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

What it found

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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

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

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5 · Who and what money

Authors and funding

16 authors.

Cristina Nieto-JiménezExperimental Therapeutics Unit, Hospital Clínico San Carlos (HCSC) Instituto de Investigación Sanitaria San Carlos (IdISSC), Madrid, Spain.
Esther Garcia-LorenzoSTART Madrid-FJD, Hospital Fundación Jiménez Díaz, Madrid, Spain.
Cristina Diaz-TejeiroExperimental Therapeutics Unit, Hospital Clínico San Carlos (HCSC) Instituto de Investigación Sanitaria San Carlos (IdISSC), Madrid, Spain.
Lucía Paniagua-HerranzExperimental Therapeutics Unit, Hospital Clínico San Carlos (HCSC) Instituto de Investigación Sanitaria San Carlos (IdISSC), Madrid, Spain.
Adrián SanvicenteExperimental Therapeutics Unit, Hospital Clínico San Carlos (HCSC) Instituto de Investigación Sanitaria San Carlos (IdISSC), Madrid, Spain.
Bernard DogerSTART Madrid-FJD, Hospital Fundación Jiménez Díaz, Madrid, Spain.
Irene MorenoSTART Madrid-CIOCC, Centro Integral Oncológico Clara Campal, Madrid, Spain.
Manuel PedregalSTART Madrid-FJD, Hospital Fundación Jiménez Díaz, Madrid, Spain.
Jorge BartoloméSan Carlos Clinical Hospital, Oncology, Madrid, Spain.
Arancha ManzanoSan Carlos Clinical Hospital, Oncology, Madrid, Spain.
Gyöngyi MunkácsyDepartment of Bioinformatics, Semmelweis University, Tűzoltó U. 7-9, Budapest, 1094, Hungary.
Balázs GyőrffyDepartment of Bioinformatics, Semmelweis University, Tűzoltó U. 7-9, Budapest, 1094, Hungary.
Pedro Pérez-SeguraSan Carlos Clinical Hospital, Oncology, Madrid, Spain.
Emiliano CalvoSTART Madrid-CIOCC, Centro Integral Oncológico Clara Campal, Madrid, Spain.
Victor MorenoSTART Madrid-FJD, Hospital Fundación Jiménez Díaz, Madrid, Spain.
Alberto OcanaExperimental Therapeutics Unit, Hospital Clínico San Carlos (HCSC) Instituto de Investigación Sanitaria San Carlos (IdISSC), Madrid, Spain. alberto.ocana@salud.madrid.org.

Funding

CRIS Cancer Foundation AOF.C01 CRISInstituto de Salud Carlos III PI19/00808
6 · The paper itself

Abstract

Genomic alterations in tumor cells can influence immune response, as has been demonstrated in several tumor types. For instance, mutations in certain genes like EGFR or B-RAF are associated with a particular immune phenotype. Non-small cell lung cancer (NSCLC) is one of the most immunogenic tumors, but certain genomic alterations can modulate and influence immune response. In the present work, we explore the transcriptomic landscape and immunologic profile of NSCLC with molecular alterations in SMARCA4. Using the TCGA repository we exploited their analysis with R and other available packages. cBioPortal was used to explore and analyze the mutational profile present in those tumors The prognostic value of identified genes in patients treated with immunotherapy was evaluated using the KMplotter online tool, and for correlations with immune populations TIMER 2.0 was interrogated. In lung adenocarcinoma (LUAD) and squamous cell carcinoma (LUSC) disruptive mutations in SMARCA4 were presented in 8%, and 4% of the cases, respectively. Gene deletions were observed in 1% of the population. The transcriptomic profile in LUAD and LUSC with deletions or disruptive mutations was explored. Interrogating TCGA using a 2.5 gene expression fold change (FC) we observed five genes commonly upregulated, and thirty-one genes commonly decreased when SMARCA4 was mutated or CNV loss was present. Enriched biological functions for downregulated genes included "Antigen processing and presentation, endogenous lipid antigen via MHC class Ib. Expression of CD1A, CD1C, CD1E, CX3CR1, and MYO1G showed a strong positive correlation with dendritic cells (DC) and dendritic cells resting (DCR). The increased expression of gene signatures formed by these transcripts resulted in a better prognosis in a set of patients with different tumors treated with anti-PD1 therapies, including 21 non-small cell lung cancers. We evaluated genomic alterations and transcriptomic patterns of SMARCA4 alterations in NSCLC tumors, identifying a relevant immunologic downregulated gene set linked with antigen presentation that predicts response to anti-PD1 therapies.

Indexed as

Carcinoma, Non-Small-Cell LungDNA HelicasesLung NeoplasmsNuclear ProteinsTranscription FactorsAdenocarcinoma of LungCarcinoma, Squamous CellComputer SimulationGene Expression ProfilingGene Expression Regulation, NeoplasticHumansMutationPrognosisTranscriptomeDNA HelicasesNuclear ProteinsSMARCA4 protein, humanTranscription FactorsImmune responseImmunologic profileLUADLung adenocarcinomaSMARCA4

Identifiers

PMID40404793
PMCPMC12098669

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LicenceCC BY-NC-ND
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Registered trials

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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 OpenQuestion graph.