Moura, David SDiaz-Martin, JuanBague, SilviaOrellana-Fernandez, RuthSebio, AnaMondaza-Hernandez, Jose LSalguero-Aranda, CarmenRojo, FedericoHindi, NadiaFletcher, Christopher D MMartin-Broto, Javier2023-02-092023-02-092021-07-13Moura DS, Díaz-Martín J, Bagué S, Orellana-Fernandez R, Sebio A, et al. A Novel NFIX-STAT6 Gene Fusion in Solitary Fibrous Tumor: A Case Report. Int J Mol Sci. 2021 Jul 13;22(14):7514.http://hdl.handle.net/10668/18241Solitary fibrous tumor is a rare subtype of soft-tissue sarcoma with a wide spectrum of histopathological features and clinical behaviors, ranging from mildly to highly aggressive tumors. The defining genetic driver alteration is the gene fusion NAB2-STAT6, resulting from a paracentric inversion within chromosome 12q, and involving several different exons in each gene. STAT6 (signal transducer and activator of transcription 6) nuclear immunostaining and/or the identification of NAB2-STAT6 gene fusion is required for the diagnostic confirmation of solitary fibrous tumor. In the present study, a new gene fusion consisting of Nuclear Factor I X (NFIX), mapping to 19p13.2 and STAT6, mapping to 12q13.3 was identified by targeted RNA-Seq in a 74-year-old female patient diagnosed with a deep-seated solitary fibrous tumor in the pelvis. Histopathologically, the neoplasm did not display nuclear pleomorphism or tumor necrosis and had a low proliferative index. A total of 378 unique reads spanning the NFIXexon8-STAT6exon2 breakpoint with 55 different start sites were detected in the bioinformatic analysis, which represented 59.5% of the reads intersecting the genomic location on either side of the breakpoint. Targeted RNA-Seq results were validated by RT-PCR/ Sanger sequencing. The identification of a new gene fusion partner for STAT6 in solitary fibrous tumor opens intriguing new hypotheses to refine the role of STAT6 in the sarcomatogenesis of this entity.enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/NFIX–STAT6STAT6gene fusionsolitary fibrous tumorAgedFemaleGene FusionHumansNFI Transcription FactorsOncogene Proteins, FusionPrognosisSTAT6 Transcription FactorSolitary Fibrous Tumorsresearch article34299133open accessFusión génicaTumores fibrosos solitariosNeoplasiasRNA-SeqPelvisSarcomaNecrosisFactor de transcripción STAT6Cromosomas10.3390/ijms221475141422-0067PMC8305824https://www.mdpi.com/1422-0067/22/14/7514/pdf?version=1626839752https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305824/pdf