Artículo
A Novel NFIX-STAT6 Gene Fusion in Solitary Fibrous Tumor: A Case Report
Autor/es | Moura, David
Díaz Martín, Juan Bagué, Silvia Orellana-Fernandez, Ruth Sebio, Ana Salguero-Aranda, Carmen Martin-Broto, Javier |
Departamento | Universidad de Sevilla. Departamento de Citología e Histología Normal y Patológica |
Fecha de publicación | 2021-07-13 |
Fecha de depósito | 2021-09-16 |
Publicado en |
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Resumen | 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 ... 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. |
Cita | 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. |
Ficheros | Tamaño | Formato | Ver | Descripción |
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A Novel NFIX-STAT6 Gene Fusion.pdf | 2.403Mb | [PDF] | Ver/ | A Novel NFIX-STAT6 Gene Fusion |