NAB2, NGFI-A binding protein 2, 4665

N. diseases: 65; N. variants: 5
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 GeneticVariation disease BEFREE In this study, we described a cohort of 41 patients with solitary fibrous tumor of the extremities and evaluated the prognostic role of clinical and histological features, presence of C228T and C250T mutations at the TERT promoter region, and NAB2-STAT6 fusion variants. 31463729 2020
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 GeneticVariation disease BEFREE The finding that meningeal solitary fibrous tumors (SFTs) and meningeal hemangiopericytomas (HPCs) are both characterized by NAB2-STAT6 gene fusion has pushed their inclusion in the WHO 2016 Classification of tumors of the central nervous system (CNS) as different manifestations of the same entity. 29600523 2019
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 AlteredExpression disease BEFREE The hypothesis that the NAB2/STAT6 fusions will result in altered properties of the transcriptional co-repressor NAB2--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. 23761323 2013
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 GeneticVariation disease BEFREE Distinct clinicopathological features of NAB2-STAT6 fusion gene variants in solitary fibrous tumor with emphasis on the acquisition of highly malignant potential. 25582503 2015
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 GeneticVariation disease BEFREE Solitary fibrous tumor is a mesenchymal neoplasm exhibiting a broad spectrum of biological behavior and harboring the NAB2-STAT6 fusion. 27562490 2016
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 GeneticVariation disease BEFREE 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
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 Most notable classification changes include: adding 'hybrid nerve sheath tumours' to the spectrum of benign nerve sheath tumours; an updated definition of atypical meningioma (WHO grade II), including cases with brain invasion; recognizing dural solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) as a single tumour entity characterized by NAB2 and STAT6 gene fusions for which the term SFT/HPC was chosen; recognizing that pituitary granular cell tumour, spindle cell oncocytoma, and pituicytoma all share nuclear expression of TTF-1, possibly representing a spectrum of a single nosological entity derived from posterior pituitary glial cells. 28295484 2018
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 Biomarker disease BEFREE Recent studies have unraveled STAT6 as a useful diagnostic immunohistochemical (IHC) marker for a SFT and NAB2-STAT6 as its specific gene fusion transcript. 28869107 2017
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 Asymptomatic normal-coloured submucosal nodules located in the buccal mucosa and tongue in adult patients are suggestive of oral solitary fibrous tumour, but only a careful microscopic examination can differentiate benign from malignant variants and the use of immunohistochemistry (CD34, Bcl-2, CD99 and STAT6), and cytogenetic studies (NAB2-STAT6) contribute significantly to confirm the diagnosis of solitary fibrous tumour in difficult cases. 31424136 2020
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 GeneticVariation disease BEFREE The clinical aggressiveness of extrathoraic SFTs is associated with malignant histology but unrelated to the NAB2-STAT6 fusion variants. 27039712 2016
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 Biomarker disease BEFREE STAT6 stain has proved to be a good surrogate marker for the genetic alteration (NAB2-STAT6 gene fusion) in solitary fibrous tumor (SFT). 30664532 2019
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 FusionGene disease ORPHANET 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
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 GeneticVariation disease BEFREE Solitary fibrous tumors (SFTs) are rare mesenchymal tumors commonly located in the pleura, soft tissues, or meninges and are characterized by the NGFI-A-binding protein 2 (NAB2)-signal transducer and activator of transcription 6 (STAT6) fusion gene. 28914981 2018
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 GeneticVariation disease BEFREE Solitary fibrous tumors (SFTs) are NAB2-STAT6 fusion-associated neoplasms. 31321477 2019
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 GeneticVariation disease BEFREE FDG PET/CT and MR imaging of CD34-negative soft-tissue solitary fibrous tumor with NAB2-STAT6 fusion gene. 25667482 2015
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 GeneticVariation 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 However, considerable heterogeneity exists in the head and neck SFTs regarding the locations, histological patterns, and NAB2-STAT6 fusion variants. 26154686 2016
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor 		0.600 Biomarker disease BEFREE Positive immunohistochemical stains for CD34 and STAT6 and the detection of NAB2-STAT6 fusion supported the diagnosis of dedifferentiated SFT in both cases. 29309807 2018
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 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 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 GeneticVariation disease BEFREE The implications of NAB2-STAT6 fusion variants in pathological features and clinical behavior remain to be characterized in a large cohort of SFTs. 26226844 2015