PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Alveolar rhabdomyosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 AlteredExpression disease BEFREE Entinostat, a selective class I histone deacetylase inhibitor, has been reported to enhance the activity of cytotoxic agents and suppress expression of PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS). 31099166 2019
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 GeneticVariation disease BEFREE Alveolar rhabdomyosarcoma (RMS) is associated with an underlying pathogenic translocation involving either PAX3 or PAX7 and FOXO1. 31299267 2019
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker disease BEFREE We previously identified the class I-specific histone deacetylase inhibitor, entinostat (ENT), as a pharmacological agent that transcriptionally suppresses the PAX3:FOXO1 tumor-initiating fusion gene found in alveolar rhabdomyosarcoma (aRMS), and we further investigated the mechanism by which ENT suppresses PAX3:FOXO1 oncogene and demonstrated the preclinical efficacy of ENT in RMS orthotopic allograft and patient-derived xenograft (PDX) models. 31113472 2019
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 AlteredExpression disease BEFREE In this review, we will discuss the current knowledge regarding potential therapeutic targets that might contribute to indirect interference with PAX3-FOXO1 activity in alveolar rhabdomyosarcoma at the different molecular levels and extrapolate these findings to fusion transcription factors in general. 29146205 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker disease BEFREE We also observed in double knockdown studies that the inhibition of ARMS cell proliferation, survival, and migration after knockdown of PAX3-FOXO1 was significantly (>75%) reversed by knockdown of IL24. 30190424 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 GeneticVariation disease BEFREE The majority of ARMS tumors (80%) harbor a PAX3-FOXO1 or less commonly a PAX7-FOXO1 fusion gene. 29367756 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker disease BEFREE <i>PPP2R1A</i> regulated by PAX3/FOXO1 fusion contributes to the acquisition of aggressive behavior in PAX3/FOXO1-positive alveolar rhabdomyosarcoma. 29861864 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 AlteredExpression disease BEFREE Among the subsets of this disease, alveolar rhabdomyosarcoma (ARMS) expressing paired box 3 (PAX3) and forkhead box O1 (PAX3-FOXO1) fusion oncoprotein has the worst prognosis. 29277758 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker disease BEFREE Somatic genetic rearrangements that juxtapose the PAX3 DNA binding domain to the transcriptional activation domain of other transcription factors deregulate PAX3 function and contribute to the pathogenesis of the soft tissue cancers alveolar rhabdomyosarcoma and biphenotypic sinonasal sarcoma. 29730428 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker disease BEFREE The chromosomal translocation that leads to alveolar rhabdomyosarcoma development generates a novel TAD that is likely to favour ectopic PAX3:FOXO1 oncogene activation in non-PAX3 territories. 28615069 2017
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 GeneticVariation disease BEFREE Alveolar rhabdomyosarcoma (aRMS) is a pediatric soft tissue cancer commonly associated with a chromosomal translocation that leads to the expression of a Pax3:Foxo1 or Pax7:Foxo1 fusion protein, the developmental underpinnings of which may give clues to its therapeutic approaches. 28883017 2017
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 AlteredExpression disease BEFREE Alveolar rhabdomyosarcoma (ARMS) is a devastating pediatric disease driven by expression of the oncogenic fusion gene PAX3-FOXO1A. 27864345 2017
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker disease BEFREE The presence of PAX3-FOXO1 in SNS and alveolar rhabdomyosarcoma suggests that these two entities are genetically similar lesions arising from distinct progenitor cell pools. 26355893 2016
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 GeneticVariation disease BEFREE In this study we demonstrate that PAX3-FOXO1 serves as a driver mutation to initiate a cascade of mRNA and miRNA changes that ultimately reprogram proliferating myoblasts to induce the formation of ARMS. 27588498 2016
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker disease BEFREE In conclusion, we report a novel PAX3-NCOA1 fusion in BSNS, which appears to be associated with focal rhabdomyoblastic differentiation and should be distinguished from PAX3-NCOA1-positive alveolar rhabdomyosarcoma or malignant Triton tumor. 26371783 2016
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 AlteredExpression disease BEFREE Interestingly, we found that the fusion RNA profile of RH30, an ARMS cell line, is most similar to the myogenesis time point when PAX3-FOXO1 is expressed. 27799565 2016
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 AlteredExpression disease BEFREE Therefore, this work identifies CHD4 as an epigenetic coregulator of PAX3-FOXO1 activity, providing rational evidence for CHD4 as a potential therapeutic target in aRMS. 27760049 2016
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker disease BEFREE RGD liposome-protamine-siRNA (LPR) nanoparticles targeting PAX3-FOXO1 for alveolar rhabdomyosarcoma therapy. 27261335 2016
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker disease BEFREE Prognostic value of PAX3/7-FOXO1 fusion status in alveolar rhabdomyosarcoma: Systematic review and meta-analysis. 26008753 2015
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 GeneticVariation disease BEFREE The reciprocal t(2;13)(q36.1;q14.1) in human alveolar rhabdomyosarcoma (A-RMS) creates a pathognomonic PAX3-FOXO1 fusion gene. 25659124 2015
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker disease BEFREE Taken together, these preclinical studies validate the PLK1-PAX3-FOXO1 axis as a rational target to treat aRMS. 25398439 2015
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 GeneticVariation disease BEFREE In 24 histologic ARMS tested for FISH or PCR, 83.3 % were translocation-positive (all for PAX3-FOXO1 by PCR) and included 3 histologic solid variants. 25912319 2015
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 GeneticVariation disease BEFREE Although the pathogenesis in classic ARMS cases is thought to be driven by the 5'PAX3-3'FOXO1 fusion on derivative chromosome 13, here we report a novel cryptic insertion of 3'FOXO1 resulting in a pathogenic fusion with 5'PAX3 on inverted chromosome 2q. 26316324 2015
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker disease GENOMICS_ENGLAND Clonality and evolutionary history of rhabdomyosarcoma. 25768946 2015
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 GeneticVariation disease BEFREE Recent studies of ARMS have shown two specific recurrent translocations: PAX3-FKHR [t(2;13)(q35;q14)] or PAX7-FKHR [t(1;13)(p36;q14)]. 24427371 2014