RT Journal Article
T1 Evaluation of NAB2-STAT6 Fusion Variants and Other Molecular Alterations as Prognostic Biomarkers in a Case Series of 83 Solitary Fibrous Tumors.
A1 Salguero-Aranda, Carmen
A1 Martínez-Reguera, Paula
A1 Marcilla, David
A1 de-Alava, Enrique
A1 Diaz-Martin, Juan
K1 gene fusion
K1 genetic alterations
K1 molecular diagnostics
K1 risk stratification
K1 solitary fibrous tumor
AB Risk stratification of solitary fibrous tumor (SFT) patients based on clinicopathological features has limited efficacy, especially in predicting late relapse or metastasis. The hallmark alteration of SFT is the gene fusion NAB2-STAT6, whose prognostic value remains controversial. As biological knowledge of this entity has increased in recent years, new molecular alterations have emerged that could be helpful to refine current risk models. Here, we evaluated NAB2-STAT6 fusion variants and other molecular alterations in a series of 83 SFTs that are enriched in progressing cases. Gene fusion variants were identified by targeted RNA-seq in the whole series, whereas TERT promoter (pTERT) mutations were inspected by Sanger sequencing in a subset of 18 cases. Immunohistochemical assays were performed to assess BCOR and NTRK expression as well as P53 mutation status in 45, 44, and 44 cases, respectively. While confirming the associations of gene fusion variants with clinicopathological parameters, our results do not prove their prognostic value. Pan-TRK immunoexpresion correlated with recurrence/progression, P53 staining associated with higher mitotic counts, and pTERT mutations were enriched in cases with fatal outcome. An intriguing correlation was found for BCOR protein expression with gene fusion variants, size, and tumor location.
PB MDPI AG
SN 2072-6694
YR 2021
FD 2021-10-19
LK https://hdl.handle.net/10668/27932
UL https://hdl.handle.net/10668/27932
LA en
NO Salguero-Aranda C, Martínez-Reguera P, Marcilla D, de Álava E, Díaz-Martín J. Evaluation of NAB2-STAT6 Fusion Variants and Other Molecular Alterations as Prognostic Biomarkers in a Case Series of 83 Solitary Fibrous Tumors. Cancers (Basel). 2021 Oct 19;13(20):5237
DS RISalud
RD Apr 7, 2025