dc.creator | Moura, David | es |
dc.creator | Díaz Martín, Juan | es |
dc.creator | Bagué, Silvia | es |
dc.creator | Orellana-Fernandez, Ruth | es |
dc.creator | Sebio, Ana | es |
dc.creator | Salguero-Aranda, Carmen | es |
dc.creator | Martin-Broto, Javier | es |
dc.date.accessioned | 2021-09-16T11:05:48Z | |
dc.date.available | 2021-09-16T11:05:48Z | |
dc.date.issued | 2021-07-13 | |
dc.identifier.citation | Moura, D., Díaz Martín, J., Bagué, S., Orellana-Fernandez, R., Sebio, A., Salguero Aranda, C. y Martin-Broto, J. (2021). A Novel NFIX-STAT6 Gene Fusion in Solitary Fibrous Tumor: A Case Report. International Journal of Molecular Sciences, 22 (14), art.n.7514. | |
dc.identifier.issn | 1661-6596 (impreso) | es |
dc.identifier.issn | 1422-0067 (electrónico) | es |
dc.identifier.uri | https://hdl.handle.net/11441/125906 | |
dc.description.abstract | Solitary 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. | es |
dc.format | application/pdf | es |
dc.format.extent | 9 p. | es |
dc.language.iso | eng | es |
dc.publisher | MDPI | es |
dc.relation.ispartof | International Journal of Molecular Sciences, 22 (14), art.n.7514. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Solitary fibrous tumor | es |
dc.subject | Gene fusion | es |
dc.subject | STAT6 | es |
dc.subject | NFIX–STAT6 | es |
dc.title | A Novel NFIX-STAT6 Gene Fusion in Solitary Fibrous Tumor: A Case Report | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Citología e Histología Normal y Patológica | es |
dc.relation.publisherversion | https://www.mdpi.com/1422-0067/22/14/7514 | es |
dc.identifier.doi | 10.3390/ijms22147514 | es |
dc.journaltitle | International Journal of Molecular Sciences | es |
dc.publication.volumen | 22 | es |
dc.publication.issue | 14 | es |
dc.publication.initialPage | art.n.7514 | es |