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A Novel <i>NFIX-STAT6</i> Gene Fusion in Solitary Fibrous Tumor: A Case Report
oleh: David S. Moura, Juan Díaz-Martín, Silvia Bagué, Ruth Orellana-Fernandez, Ana Sebio, Jose L. Mondaza-Hernandez, Carmen Salguero-Aranda, Federico Rojo, Nadia Hindi, Christopher D. M. Fletcher, Javier Martin-Broto
Format: | Article |
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Diterbitkan: | MDPI AG 2021-07-01 |
Deskripsi
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 <i>NAB2–STAT6</i>, 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 <i>NAB2–STAT6</i> gene fusion is required for the diagnostic confirmation of solitary fibrous tumor. In the present study, a new gene fusion consisting of <i>Nuclear Factor I X (NFIX),</i> mapping to 19p13.2 and <i>STAT6,</i> 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 <i>NFIXexon8–STAT6exon2</i> 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 <i>STAT6</i> in solitary fibrous tumor opens intriguing new hypotheses to refine the role of <i>STAT6</i> in the sarcomatogenesis of this entity.