Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE This report describes clinicopathological findings, including genetic data of STAT6, in a solitary fibrous tumor (SFT)/hemangiopericytoma (HPC) of the central nervous system in an 83-year-old woman with a bulge in the left forehead. 26746203 2016
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 GeneticVariation disease BEFREE In meninges and soft tissue, SFTs with the NAB2 exon 6-STAT6 exon 16/17/18 tended to recur more frequently than SFTs with the NAB2 exon 4-STAT6 exon 2/3. 27271270 2016
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE NAB2-STAT6 fusion was detected in 34 SFTs. 26686340 2016
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE We assessed STAT6 immunoexpression for 61 extrathoracic SFTs exclusive of the meninges and head and neck, and 25 had analyzable RNAs to distinguish fusion variants by RT-PCR. 27039712 2016
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE While NAB2:STAT6 fusions are common in solitary fibrous tumors (SFT), we report this event for the first time in a newly diagnosed, secondary-type GBM or any other non-SFT. 26817999 2016
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE This led to development of a STAT6 antibody that is a reliable immunohistochemical marker for solitary fibrous tumors. 26811225 2016
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE Nuclear STAT6 immunoexpression is sensitive and specific for distinguishing SFT from mimics. 26154686 2016
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 GeneticVariation disease BEFREE NAB2 exon 4-STAT6 exon 3 fusion correlated with classic SFT morphology and older age and showed a trend toward less mitotic activity; there was also a trend toward more aggressive behavior in tumors lacking NAB2 exon 4-STAT6 exon 3. 26883114 2016
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE Including 73 fusion-positive and 7 CD34-negative SFTs, STAT6 distinctively labeled 87 (99%) SFTs in nuclei, exhibited diffuse reactivity in 73, but did not decorate 98 mimics tested. 26226844 2015
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE To the best of our knowledge, we are the first to report NAB2-STAT6 fusion gene analysis in primary and metastatic meningeal SFT/HPCs and a case showed different fusion gene status in the metastatic tumor. 25893823 2015
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE It was suggested that a certain proportion of tumors previously diagnosed as malignant SFTs with high-grade nuclear atypia lacking NAB2-STAT6 should be categorized into a special subtype of SFT, which is genetically different from conventional SFTs, and which cannot be apparently distinguished from dedifferentiated liposarcoma or undifferentiated pleomorphic sarcoma. 25554652 2015
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 GeneticVariation disease BEFREE We examined variations of the NAB2-STAT6 fusion gene in 40 cases of SFT using formalin-fixed, paraffin-embedded tissues and secondary genetic alterations of tumor protein p53 (TP53),, platelet-derived growth factor receptor, β polypeptide (PDGFRB), and telomerase reverse transcriptase (TERT) promoters. 25582503 2015
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 GeneticVariation disease BEFREE In contrast to solitary fibrous tumors of soft tissue and sinonasal tract origin, SN-HPCs were recently shown to lack recurrent NAB2-STAT6 fusion variants. 25482924 2015
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE Our case supports the utility of STAT6 immunohistochemistry as an adjunct in the diagnosis of soft-tissue SFT with loss of CD34 positivity. 25667482 2015
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE The assessment of dedifferentiated solitary fibrous tumors is based on the presence of the fusion transcripts and, in principle, negative STAT6 immunohistochemistry should not rule out a diagnosis of solitary fibrous tumor. 26022454 2015
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 GeneticVariation disease BEFREE We have reported a case of GRIA2 and PAX8-positive SFT occurring primarily in the kidney with such NAB2-STAT6 gene fusion for the first time. 26337721 2015
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 AlteredExpression disease BEFREE As a result, nuclear expression of the cytoplasmic transcription factor STAT6 is found in solitary fibrous tumor and serves as a useful diagnostic marker. 24457460 2014
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE Nuclear relocation of STAT6 reliably predicts NAB2-STAT6 fusion for the diagnosis of solitary fibrous tumour. 24702701 2014
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 AlteredExpression disease BEFREE Recently, recurrent gene fusions involving NAB2-STAT6 resulting in differential expression of STAT6 were characterized as central molecular events in SFT. 24807787 2014
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 AlteredExpression disease BEFREE We found moderate to strong nuclear Stat6 expression in all SFTs but no expression in the other tumors. 24856853 2014
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE Consistent with other recent studies, the prostatic SFTs demonstrated NAB2-STAT6 gene fusions that were also present in the fibroblast, myofibroblast, and smooth muscle cell types of the SFT. 24434011 2014
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 GeneticVariation disease BEFREE Herein, we evaluated a cohort of 52 SFTs/hemangiopericytomas (HPCs) by whole-exome sequencing (one case) and multiplex RT-PCR (all 52 cases), and identified 12 different NAB2-STAT6 fusion variants in 48 cases (92%). 24513261 2014
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE The nuclear reallocation of STAT6 was detected in 35/37 meningeal HPC and 25/25 meningeal SFT but not in 87 meningiomas representing the most important differential diagnosis. 23575898 2013
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 FusionGene disease ORPHANET 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 a transcriptional activator. 23313952 2013
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 Biomarker disease BEFREE Analysis in 53 tumors confirmed the presence of 7 variants of this fusion transcript in 29 tumors (55%), representing a lower bound for fusion frequency at this locus and suggesting that the NAB2-STAT6 fusion is a distinct molecular feature of SFTs. 23313954 2013