GRIA2 is a novel diagnostic marker for solitary fibrous tumour identified through gene expression profiling

  title={GRIA2 is a novel diagnostic marker for solitary fibrous tumour identified through gene expression profiling},
  author={Marina Vivero and Leona A Doyle and Christopher D M Fletcher and Fredrik Mertens and Jason L. Hornick},
  pages={71 - 80}
The NAB2–STAT6 fusion was recently identified as a consistent finding in solitary fibrous tumour (SFT), resulting in nuclear expression of the C‐terminal part of STAT6. Gene expression studies of SFT revealed high expression of the GRIA2 gene. The aim of this study was to examine GRIA2 expression in SFTs and other soft tissue tumours to evaluate its diagnostic utility. 
Nuclear relocation of STAT6 reliably predicts NAB2–STAT6 fusion for the diagnosis of solitary fibrous tumour
The utility of STAT6 immunohistology in diagnosing solitary fibrous tumours is verified by verifying the utility of NAB2–STAT6 fusion in tumours with SFT.
A GRIA2 and PAX8-positive renal solitary fibrous tumor with NAB2-STAT6 gene fusion
An extremely rare case of GRIA2 and PAX8-positive SFT occurring primarily in the kidney with such NAB2-STAT6 gene fusion for the first time is reported.
Differential diagnosis of solitary fibrous tumors: A study of 454 soft tissue tumors indicating the diagnostic value of nuclear STAT6 relocation and ALDH1 expression combined with in situ proximity ligation assay.
Nuclear STAT6 and cytoplasmic ALDH1 expression are the most sensitive and specific markers in the differential diagnosis of SFTs and application of Duolink in situ proximity ligation assay can be helpful to detect the NAB2-STAT6 fusion protein in the majority of S FTs.
Novel Therapeutic Options for Solitary Fibrous Tumor: Antiangiogenic Therapy and Beyond
Overall, antiangiogenic therapies showed a significant activity toward SFT in the advanced/metastatic setting, and promising results warrant additional investigation to be validated, including randomized phase III trials and biological translational analysis, to understand and predict mechanisms of efficacy and resistance.
The Diagnostic and Clinical Significance of TFE3 Immunohistochemical Nuclear Expression in Solitary Fibrous Tumour
TFE3 is capable of enhancing the differential diagnosis of SFTs and their histologic mimickers and can be potentially used as a diagnostic marker and offer valuable insights into SFT diagnosis, aetiology, and associated molecular mechanisms.
The Current Status of Solitary Fibrous Tumor
It is recognized thatolitary fibrous tumor is a translocation-associated neoplasm, consistently associated with NAB2-STAT6 gene fusions arising from recurrent intrachromosomal rearrangements on chromosome 12q, and this translocation is a likely major contributor to its pathogenesis.
The many faces of solitary fibrous tumor; diversity of histological features, differential diagnosis and role of molecular studies and surrogate markers in avoiding misdiagnosis and predicting the behavior
The diversity of histological features of SFT is described, differential diagnoses are discussed and features helpful in distinguishing SFT from its histological mimics are discussed.


Whole exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors
Analysis in 53 tumors confirmed the presence of 7 variants of this fusion transcript in 29 tumors, representing a lower bound for fusion frequency at this locus and suggesting that the NAB2-STAT6 fusion is a distinct molecular feature of SFTs.
Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing
These studies establish NAB2-STAT6 as the defining driver mutation of SFT and provide an example of how neoplasia can be initiated by converting a transcriptional repressor of mitogenic pathways into an transcriptional activator.
IGF2 over‐expression in solitary fibrous tumours is independent of anatomical location and is related to loss of imprinting
LOI is confirmed in several tumours expressing high levels of IGF2, which may explain the observed paraneoplastic hypoglycaemia in patients with advanced/metastatic sarcoma.
Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor
The hypothesis that the NAB2/STAT6 fusions will result in altered properties of the transcriptional co‐repressor NAB 2 ‐ a key regulator of the early growth response 1 (EGR1) transcription factor – was corroborated by global gene expression analysis; SFTs showed deregulated expression of EGR1 target genes, as well as of other, developmentally important genes.
Nuclear expression of STAT6 distinguishes solitary fibrous tumor from histologic mimics
STAT6 is a highly sensitive and almost perfectly specific immunohistochemical marker for SFT and can be helpful to distinguish this tumor type from histologic mimics.
Meningeal hemangiopericytoma and solitary fibrous tumors carry the NAB2-STAT6 fusion and can be diagnosed by nuclear expression of STAT6 protein
Exome sequencing was performed and the NAB2-STAT6 fusion protein was detected in DNA of 8/10 meningeal HPC thereby providing evidence of close relationship of these tumors with peripheral SFT and it is demonstrated that this fusion can be rapidly detected by STAT6 immunohistochemistry which shows a consistent nuclear reallocation.
The constitutive expression of bcl‐2 in SFT widens the spectrum of available markers for these tumours, providing a useful adjunct to their differential diagnosis in difficult cases at pleural and extrapleural sites, and contributing to the understanding of their histogenesis and molecular pathogenesis.
Refinements in Sarcoma Classification in the Current 2013 World Health Organization Classification of Tumours of Soft Tissue and Bone.
  • V. Jo, L. Doyle
  • Medicine
    Surgical oncology clinics of North America
  • 2016
Anti-Glutamate Receptor 2 as a New Potential Diagnostic Probe for Prostatic Adenocarcinoma: A Pilot Immunohistochemical Study
Preliminary data demonstrated potential utility of 6C4 in the pathologic evaluation of PC, and revealed a statistically significant difference in staining of benign secretory prostatic epithelium, high-grade prostatic intraepithelial neoplasia, and low Gleason pattern carcinomas.
Solitary fibrous tumor: a clinicopathological study of 110 cases and proposed risk assessment model
Patients with resected primary solitary fibrous tumor were identified and the most common sites of occurrence were abdomen and pleura; these tumors were larger than those occurring in the extremities, head and neck or trunk, but did not demonstrate significant outcome differences.