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| Pàgina inicial > Articles > Articles publicats > A novel nfix-stat6 gene fusion in solitary fibrous tumor : |
(Instituto de Biomedicina de Sevilla) (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) (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) (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 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 |
