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| Pàgina inicial > Articles > Articles publicats > A novel nfix-stat6 gene fusion in solitary fibrous tumor : |
(IBiS. CSIC. HUVR. US) (Centro de Investigación Biomédica en Red de Cáncer) (Institut d'Investigació Biomèdica Sant Pau) (Institut d'Investigació Biomèdica Sant Pau) (Institut d'Investigació Biomèdica Sant Pau) (Fundacion Jimenez Diaz (IIS/FJD)) (Fundacion Jimenez Diaz) (Hospital Universitario General de Villalba) (Hospital Universitario General de Villalba)
| Data: | 2021 |
| Resum: | 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 (sig-nal 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 neo-plasm 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. |
| Ajuts: | European Commission. Horizon 2020 825806 Instituto de Salud Carlos III FI19/00184 Instituto de Salud Carlos III CD20/00155 Instituto de Salud Carlos III PI18/01728 |
| Nota: | Altres ajuts: Fondo Europeo de Desarrollo Regional (FEDER). |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Matèria: | Solitary fibrous tumor ; Gene fusion ; STAT6 ; NFIX-STAT6 |
| Publicat a: | International journal of molecular sciences, Vol. 22 Núm. 14 (february 2021) , p. 7514, ISSN 1422-0067 |
