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 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 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 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 Genomic polymerase chain reaction of genomic DNA revealed the typical FUS/Creb3L2 fusion gene products typical of low-grade fibromyxoid sarcoma. 23290535 2013
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE A t(7;16)(q34;p11) translocation, yielding a FUS/CREB3L2 fusion gene, has been identified in approximately 80%-90% of deep soft tissue LGFMS. 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 GeneticVariation disease BEFREE Low-grade fibromyxoid sarcoma (LGFMS) is a distinctive fibroblastic neoplasm that is characterized by alternating collagenous and myxoid areas, deceptively bland spindle cell morphology, a whorling architecture, and a t(7;16) translocation involving FUS and CREB3L2. 21415703 2011
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE Recently, a link has been suggested between SEF and low-grade fibromyxoid sarcoma (LGFMS) on the basis of the finding of the characteristic translocation t(7;16) (FUS-CREB3L2) of LGFMS in a small number of studied cases of SEF. 20499220 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 GeneticVariation disease BEFREE Results showed 50% of cases tested positive for the FUS-CREB3L2 translocation by RT-PCR and 81.8% by FISH, suggesting FISH is more sensitive than RT-PCR for confirming LGFMS diagnosis. 21406083 2011
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE However, supernumerary ring chromosomes have been identified in a subset of FUS/CREB3L2-positive LGFMS, but it has not yet been formally demonstrated that such ring chromosomes harbor the FUS/CREB3L2 fusion gene. 20471519 2010
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE Distinct chromosomal translocations have been identified in several myxoid sarcomas, including t(12;16)(q13;p11) FUS-DDIT3 in myxoid liposarcoma, t(7;16)(q34;p11) FUS-CREB3L2 in low-grade fibromyxoid sarcoma, and t(9;22)(q31;q12) EWSR1-NR4A3 in extraskeletal myxoid chondrosarcoma. 18162764 2008
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
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE Reported herein is a case of primary pulmonary HSCT that had FUS-CREB3L2 fusion transcripts, a product of characteristic chromosomal abnormality t(7;16)(q33;p11) of HSCT and LGFMS. 17295648 2007
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE The FUS-CREB3L2 fusion gene transcripts were detected in 14/16 (88%) cases of LGFMS. 16931951 2006
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 AlteredExpression disease BEFREE Reverse transcriptase-polymerase chain reaction analysis disclosed a FUS/CREB3L2 fusion transcript in 22 of the 23 (96%) cases that remained classified as LGFMS after the histologic re-evaluation and from which RNA of sufficient quality could be extracted, whereas none of the cases that were classified as other tumor types was fusion-positive. 15640831 2005
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 AlteredExpression disease BEFREE Thus, we investigated the expression of DOL54 in low grade fibromyxoid sarcoma (LGFMS) carrying the FUS-BBF2H7 chimeric transcript. 15201968 2004
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 Biomarker disease BEFREE The results indicated that FUS/CREB3L2 is specifically associated with LGFMS and that RT-PCR or FISH analysis may be useful for the differential diagnosis. 15139001 2004
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
0.100 GeneticVariation disease BEFREE We here show that a t(7;16)(q33;p11) in two cases of low grade fibromyxoid sarcoma fuses the FUS gene to BBF2H7, a previously uncharacterized gene that is homologous to the Drosophila Bbf-2 gene. 12915480 2003