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A Novel NFIX-STAT6 Gene Fusion in Solitary Fibrous Tumor: A Case Report

Authors :
Universidad de Sevilla. Departamento de Citología e Histología Normal y Patológica
Moura, David
Díaz Martín, Juan
Bagué, Silvia
Orellana-Fernandez, Ruth
Sebio, Ana
Salguero-Aranda, Carmen
Martin-Broto, Javier
Universidad de Sevilla. Departamento de Citología e Histología Normal y Patológica
Moura, David
Díaz Martín, Juan
Bagué, Silvia
Orellana-Fernandez, Ruth
Sebio, Ana
Salguero-Aranda, Carmen
Martin-Broto, Javier
Publication Year :
2021

Abstract

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.

Details

Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1367066684
Document Type :
Electronic Resource