A Novel NFIX-STAT6 Gene Fusion in Solitary Fibrous Tumor: A Case Report
Por:
Moura, DS, Diaz-Martin, J, Bague, S, Orellana-Fernandez, R, Sebio, A, Mondaza-Hernandez, JL, Salguero-Aranda, C, Rojo, F, Hindi, N, Fletcher, CDM, Martin-Broto, J
Publicada:
1 jul 2021
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 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.
Filiaciones:
Moura, DS:
US, Inst Biomed Seville, IBiS, HUVR,CSIC, Seville 41013, Spain
Diaz-Martin, J:
US, Inst Biomed Seville, IBiS, HUVR,CSIC, Seville 41013, Spain
Hosp Virgen del Rocio, Pathol Dept, Seville 41013, Spain
Ctr Invest Bionand Red Canc CIBERONC, Madrid 28029, Spain
Bague, S:
St Pau Hosp, Pathol Dept CIBERONC, Barcelona 08041, Spain
Orellana-Fernandez, R:
St Pau Hosp, Pathol Dept CIBERONC, Barcelona 08041, Spain
Sebio, A:
St Pau Hosp, Med Oncol Dept, Barcelona 08041, Spain
Mondaza-Hernandez, JL:
Fdn Jimenez Diaz Univ Hosp Hlth Res Inst IIS FJD, Madrid 28015, Spain
Salguero-Aranda, C:
US, Inst Biomed Seville, IBiS, HUVR,CSIC, Seville 41013, Spain
Hosp Virgen del Rocio, Pathol Dept, Seville 41013, Spain
Ctr Invest Bionand Red Canc CIBERONC, Madrid 28029, Spain
Rojo, F:
Fdn Jimenez Diaz Univ Hosp, Pathol Dept, Madrid 28040, Spain
Hindi, N:
Fdn Jimenez Diaz Univ Hosp Hlth Res Inst IIS FJD, Madrid 28015, Spain
Fdn Jimenez Diaz Univ Hosp, Med Oncol Dept, Madrid 28040, Spain
Gen de Villalba Univ Hosp, Madrid 28400, Spain
Fletcher, CDM:
Brigham & Womens Hosp, Dept Pathol, Boston, MA 02215 USA
Harvard Med Sch, Dept Pathol, Boston, MA 02115 USA
Martin-Broto, J:
Fdn Jimenez Diaz Univ Hosp Hlth Res Inst IIS FJD, Madrid 28015, Spain
Fdn Jimenez Diaz Univ Hosp, Med Oncol Dept, Madrid 28040, Spain
Gen de Villalba Univ Hosp, Madrid 28400, Spain
gold, Green Published
|