%0 Journal Article
%A Moura, David S
%A Diaz-Martin, Juan
%A Bague, Silvia
%A Orellana-Fernandez, Ruth
%A Sebio, Ana
%A Mondaza-Hernandez, Jose L
%A Salguero-Aranda, Carmen
%A Rojo, Federico
%A Hindi, Nadia
%A Fletcher, Christopher D M
%A Martin-Broto, Javier
%T A Novel NFIX-STAT6 Gene Fusion in Solitary Fibrous Tumor: A Case Report.
%D 2021
%U http://hdl.handle.net/10668/18241
%X 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.
%K NFIX–STAT6
%K STAT6
%K gene fusion
%K solitary fibrous tumor
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