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 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 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 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 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 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 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
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 GeneticVariation disease BEFREE In conclusion, we provide strong evidence for meningeal HPC and SFT to constitute variants of a single entity which is defined by NAB2-STAT6 fusion. 23575898 2013
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 GeneticVariation disease BEFREE Solitary fibrous tumors, which are characterized by their broad morphological spectrum and unpredictable behavior, are rare mesenchymal neoplasias that are currently divided into three main variants that have the NAB2-STAT6 gene fusion as their unifying molecular lesion: usual, malignant and dedifferentiated solitary fibrous tumors. 26022454 2015
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 GeneticVariation disease BEFREE Clinicopathological data, including yearly follow-ups, are required for meningeal SFTs/HPCs to define the correlation of variants of NAB2-STAT6 fusion gene. 27271270 2016
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.600 GeneticVariation disease BEFREE This review addresses three main neoplastic categories that are associated with specific paraneoplastic phenomena: (1) neoplasms having in common the presence of diffuse mixed inflammatory infiltration (closely simulating an inflammatory pseudotumor) and frequently associated with constitutional symptoms; (2) neoplasms with undifferentiated, anaplastic or rhabdoid cell morphology (frequently SWI/SNF-deficient) associated with diverse paraneoplastic manifestations; and (3) paraneoplasia associated with neoplasms carrying specific gene fusions such as solitary fibrous tumor (STAT6-NAB2 gene fusions), infantile fibrosarcoma and congenital mesoblastic nephroma (ETV6-NTRK3 gene fusions), and angiomatoid fibrous histiocytoma (EWSR1-CREB1 & EWSR1-ATF1 fusions). 30819530 2019
CUI: C0018922
Disease: hemangiopericytoma
hemangiopericytoma
0.380 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: C0018922
Disease: hemangiopericytoma
hemangiopericytoma
0.380 GeneticVariation disease BEFREE Solitary fibrous tumors/hemangiopericytomas with different variants of the NAB2-STAT6 gene fusion are characterized by specific histomorphology and distinct clinicopathological features. 24513261 2014
CUI: C0018922
Disease: hemangiopericytoma
hemangiopericytoma
0.380 GeneticVariation disease BEFREE We present two cases of meningeal solitary fibrous tumor (SFT)/hemangiopericytoma (HPC) with immunohistochemistry of STAT6 and analysis of NAB2-STAT6 fusion genes. 25893823 2015
CUI: C0018922
Disease: hemangiopericytoma
hemangiopericytoma
0.380 GeneticVariation disease BEFREE Clinicopathological data, including yearly follow-ups, are required for meningeal SFTs/HPCs to define the correlation of variants of NAB2-STAT6 fusion gene. 27271270 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017