{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Moes-Sosnowska J"],"funding":["Celon Pharma S.A.","National Center of Research and Development and pharmaceutical company Celon Pharma S.A.","National Center of Research and Development"],"pagination":["10506"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9505002"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(18)"],"pubmed_abstract":["While fibroblast growth factor receptors (FGFRs) are involved in several biological pathways and FGFR inhibitors may be useful in the treatment of squamous non-small cell lung cancer (Sq-NSCLC), FGFR aberrations are not well characterized in Sq-NSCLC. We comprehensively evaluated FGFR expression, fusions, and variants in 40 fresh-frozen primary Sq-NSCLC (stage IA3−IV) samples and tumor-adjacent normal tissues using real-time PCR and next-generation sequencing (NGS). Protein expression of FGFR1−3 and amplification of FGFR1 were also analyzed. FGFR1 and FGFR4 median gene expression was significantly (p < 0.001) decreased in tumors compared with normal tissue. Increased FGFR3 expression enhanced the recurrence risk (hazard ratio 4.72, p = 0.029), while high FGFR4 expression was associated with lymph node metastasis (p = 0.036). Enhanced FGFR1 gene expression was correlated with FGFR1 protein overexpression (r = 0.75, p = 0.0003), but not with FGFR1 amplification. NGS revealed known pathogenic FGFR2,3 variants, an FGFR3::TACC3 fusion, and a novel TACC1::FGFR1 fusion together with FGFR1,2 variants of uncertain significance not previously reported in Sq-NSCLC. These findings expand our knowledge of the Sq-NSCLC molecular background and show that combining different methods increases the rate of FGFR aberrations detection, which may improve patient selection for FGFRi treatment."],"journal":["International journal of molecular sciences"],"pubmed_title":["FGFR1-4 RNA-Based Gene Alteration and Expression Analysis in Squamous Non-Small Cell Lung Cancer."],"pmcid":["PMC9505002"],"funding_grant_id":["STRATEGMED2/266776/17/NCBR/2015","project &quot;CELONKO&quot; (STRATEGMED2 /266776/17/NCBR/2015)"],"pubmed_authors":["Popiel D","Wieczorek M","Lechowicz U","Rudzinski P","Szczepulska-Wojcik E","Skupinska M","Stepniewska A","Langfort R","Moes-Sosnowska J","Stanczak A","Chorostowska-Wynimko J","Orlowski T","Skronska P","Rozy A"],"additional_accession":[]},"is_claimable":false,"name":"FGFR1-4 RNA-Based Gene Alteration and Expression Analysis in Squamous Non-Small Cell Lung Cancer.","description":"While fibroblast growth factor receptors (FGFRs) are involved in several biological pathways and FGFR inhibitors may be useful in the treatment of squamous non-small cell lung cancer (Sq-NSCLC), FGFR aberrations are not well characterized in Sq-NSCLC. We comprehensively evaluated FGFR expression, fusions, and variants in 40 fresh-frozen primary Sq-NSCLC (stage IA3−IV) samples and tumor-adjacent normal tissues using real-time PCR and next-generation sequencing (NGS). Protein expression of FGFR1−3 and amplification of FGFR1 were also analyzed. FGFR1 and FGFR4 median gene expression was significantly (p < 0.001) decreased in tumors compared with normal tissue. Increased FGFR3 expression enhanced the recurrence risk (hazard ratio 4.72, p = 0.029), while high FGFR4 expression was associated with lymph node metastasis (p = 0.036). Enhanced FGFR1 gene expression was correlated with FGFR1 protein overexpression (r = 0.75, p = 0.0003), but not with FGFR1 amplification. NGS revealed known pathogenic FGFR2,3 variants, an FGFR3::TACC3 fusion, and a novel TACC1::FGFR1 fusion together with FGFR1,2 variants of uncertain significance not previously reported in Sq-NSCLC. These findings expand our knowledge of the Sq-NSCLC molecular background and show that combining different methods increases the rate of FGFR aberrations detection, which may improve patient selection for FGFRi treatment.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2026-04-08T11:49:25.917Z","creation":"2025-02-19T00:43:49.762Z"},"accession":"S-EPMC9505002","cross_references":{"pubmed":["36142417"],"doi":["10.3390/ijms231810506"]}}