RT Journal Article
T1 A Novel NFIX-STAT6 Gene Fusion in Solitary Fibrous Tumor: A Case Report.
A1 Moura, David S
A1 Diaz-Martin, Juan
A1 Bague, Silvia
A1 Orellana-Fernandez, Ruth
A1 Sebio, Ana
A1 Mondaza-Hernandez, Jose L
A1 Salguero-Aranda, Carmen
A1 Rojo, Federico
A1 Hindi, Nadia
A1 Fletcher, Christopher D M
A1 Martin-Broto, Javier
K1 NFIX–STAT6
K1 STAT6
K1 gene fusion
K1 solitary fibrous tumor
AB 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.
PB MDPI AG
YR 2021
FD 2021-07-13
LK http://hdl.handle.net/10668/18241
UL http://hdl.handle.net/10668/18241
LA en
NO Moura DS, Díaz-Martín J, Bagué S, Orellana-Fernandez R, Sebio A, et al. A Novel NFIX-STAT6 Gene Fusion in Solitary Fibrous Tumor: A Case Report. Int J Mol Sci. 2021 Jul 13;22(14):7514.
DS RISalud
RD Apr 12, 2025