FUS, FUS RNA binding protein, 2521

N. diseases: 301; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE Immunohistochemical analysis showed immunoreactivity for MUC4 and break-apart fluorescence in situ hybridization was positive for FUS rearrangement, confirming the diagnosis of LGFMS. 30632203 2019
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE In the largest study of hybrid LGFMS-SEF tumors to date, all cases exhibited FUS rearrangements, a similar genetic profile to LGFMS. 29426275 2018
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE In some cases, areas indistinguishable from LGFMS are present, and these have been shown to contain FUS-CREB3L2 fusion transcripts. 28648941 2017
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE The results of immunohistochemistry (MUC4 staining) and FUS gene rearrangement by fluorescence in situ hybridization confirmed the diagnosis of LGFMS. 28558780 2017
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE Primary intracranial low-grade fibromyxoid sarcoma with FUS gene rearrangement. 25828939 2015
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE While the majority of LGFMS cases are characterized by a FUS-CREB3L1 fusion, both FUS-CREB3L2 and EWSR1-CREB3L1 fusions were recently demonstrated in a small number of LGFMS and SEF/LGFMS hybrid tumors. 25231134 2015
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE Both cases presented were confirmed to harbor FUS gene rearrangement, thereby confirming a diagnosis of LGFMS. 25416841 2015
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE We describe a case of superficial low-grade fibromyxoid sarcoma (LGFMS) in a 12-year-old boy, confirmed by the detection of FUS-CREB3L2 fusion transcripts by reverse-transcription polymerase chain reaction and FUS rearrangement with fluorescence in situ hybridization, which had morphological features similar to ossifying fibromyxoid tumor (OFMT), including an almost complete rim of mature, metaplastic bone. 25532939 2015
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE This fusion has recently been described as a variant translocation in low-grade fibromyxoid sarcoma (LGFMS), a tumor more typically characterized by a recurrent t(7;16) chromosomal translocation, resulting in the fusion of FUS and CREB3L2 genes. 24896634 2014
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE All 5 cases of LGFMS with progression to SEF morphology or hybrid features had FUS-CREB3L2 fusion transcripts. 24441665 2014
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE Fluorescent in situ hybridization (FISH) with a break-apart probe for FUS revealed the presence of a FUS gene rearrangement confirming the diagnosis of LGFMS. 24188507 2014
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE Deeply located low-grade fibromyxoid sarcoma with FUS-CREB3L2 gene fusion in a 5-year-old boy with review of literature. 25183312 2014
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE Our findings therefore expand the spectrum of gene fusions that characterize LGFMS and suggest that the EWSR1 gene may substitute for the function of FUS in gene fusions of sarcoma. 23588368 2013
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE MUC4-positive SEFs that lack FUS rearrangement may be related to LGFMS but could have alternate fusion partners, including EWSR1. 22982887 2012
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE In accordance with previous studies, our case showed positive findings of FUS rearrangement, reinforcing the notion of a close relationship between low grade fibromyxoid sarcoma and SEF. 22192807 2012
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE We evaluated cases of pure sclerosing epithelioid fibrosarcoma lacking areas of low-grade fibromyxoid sarcoma for FUS rearrangement to determine whether this entity could be related to low-grade fibromyxoid sarcoma. 22388756 2012
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE Whole-tissue sections of 309 tumors were evaluated: 49 LGFMSs (all with FUS gene rearrangement confirmed by fluorescence in situ hybridization), 40 soft tissue perineuriomas, 40 myxofibrosarcomas, 20 cellular myxomas, 20 solitary fibrous tumors, 20 low-grade malignant peripheral nerve sheath tumors, 20 cases of desmoid fibromatosis, 20 neurofibromas, 20 schwannomas, 20 monophasic synovial sarcomas, 20 cases of dermatofibrosarcoma protuberans, 10 myxoid liposarcomas, and 10 extraskeletal myxoid chondrosarcomas. 21415703 2011
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE We present a case of an ossifying tumor of the perineum that required an open biopsy and fluorescent in situ hybridization testing for FUS and CREB3L2 for diagnosis as a variant of low-grade fibromyxoid sarcoma. 21658743 2011
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE RT-PCR and FISH for the FUS-CREB3L2 fusion transcript are useful tools for confirming LGFMS diagnosis, but have no role in predicting medium-term clinical outcome. 21406083 2011
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE Our observed frequency of FUS rearrangement in superficial LGFMS is consistent with those published in the literature for more deeply seated lesions. 21399449 2011
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 AlteredExpression disease BEFREE FUS-CREB3L2 was capable of activating transcription from CD24 regulatory sequences in luciferase assays, suggesting an important role for the upregulation of this gene in LGFMS. 21536545 2011
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE By fluorescent in-situ hybridization (FISH) technique, the case with mixed SEF and LGFMS histology was positive for FUS rearrangement. 20499220 2011
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE Fusion of the FUS and CREB3L2 genes in a supernumerary ring chromosome in low-grade fibromyxoid sarcoma. 20471519 2010
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE Postoperative pathology of the resected specimen revealed the tumor to be LGFMS based on its histological appearance, immunohistological staining, and evidence of fused in sarcoma (FUS) translocation by fluorescence in situ hybridization. 20628852 2010
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE RT-PCR analysis revealed FUS-CREB3L2 fusion transcripts in 16 of the 19 (84%) LGFMSs. 18382348 2008