Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 Biomarker disease BEFREE TFE3 regulates both Golgi and lysosomal homeostasis and is rearranged in renal cell carcinoma (RCC), alveolar soft part sarcoma, epithelioid hemangioendothelioma, and perivascular epitheloid cell tumors (PEComas). 31774608 2020
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE Transcription factor E3 (TFE3) is a useful marker for tumors with Xp11.2 translocation, including alveolar soft part sarcoma and renal cell carcinoma. 31788112 2019
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 AlteredExpression disease BEFREE We here report an interesting and challenging case of malignant PEComa that showed transcription factor E3 (TFE3) protein expression and rearrangement, paucity of muscle and melanocytic marker expression, and morphologically mimicked alveolar soft part sarcoma. 29208563 2018
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE Activity and safety of crizotinib in patients with alveolar soft part sarcoma with rearrangement of TFE3: European Organization for Research and Treatment of Cancer (EORTC) phase II trial 90101 'CREATE'. 29216400 2018
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE Furthermore, among neoplasms with the SFPQ-TFE3, NONO-TFE3, DVL2-TFE3, and ASPL-TFE3 gene fusions, the RCCs are almost always PAX8 positive, cathepsin K negative by immunohistochemistry, whereas the mesenchymal counterparts (Xp11 translocation PEComas, melanotic Xp11 translocation renal cancers, and alveolar soft part sarcoma) are PAX8 negative, cathepsin K positive. 26975036 2016
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 Biomarker disease BEFREE Validation and utilization of a TFE3 break-apart FISH assay for Xp11.2 translocation renal cell carcinoma and alveolar soft part sarcoma. 26415891 2015
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE It is characterized by a specific chromosomal alteration, der(17)t(X:17)(p11:q25), resulting in fusion of the transcription factor E3 (TFE3) with alveolar soft part sarcoma critical region 1 (ASPSCR1) at 17q25. 26516944 2015
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE Alveolar soft part sarcoma of lung: report of a unique case with emphasis on diagnostic utility of molecular genetic analysis for TFE3 gene rearrangement and immunohistochemistry for TFE3 antigen expression. 26369552 2015
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 AlteredExpression disease BEFREE The current report describes a unique case of vulvovaginal alveolar soft part sarcoma showing the classic morphologic features with documentation of TFE3 protein expression and the ASPL-TFE3 gene rearrangement. 24681737 2014
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE Molecular cytogenetic analysis for TFE3 rearrangement in Xp11.2 renal cell carcinoma and alveolar soft part sarcoma: validation and clinical experience with 75 cases. 23828314 2014
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE Ultrastructurally, the ASPL-TFE3 RCC variant contains rhomboid crystals in the cytoplasm, similar to that observed in alveolar soft part sarcoma. 22207547 2012
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE Our results demonstrate that the most sensitive marker of alveolar soft part sarcoma was the presence of the ASPSCR1-TFE3 fusion transcript. 21835426 2012
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE All conventional sections from the Xp11.2 RCC and alveolar soft part sarcoma cases were positive for the TFE3 rearrangement by FISH.All remaining cases were negative. 21817901 2011
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 Biomarker disease BEFREE These include a distinctive RCC that bears a translocation with the identical chromosomal breakpoints (Xp11.2, 17q25) and identical resulting ASPL-TFE3 gene fusion as alveolar soft part sarcoma. 20073616 2010
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE The resulting gene fusions involve the TFE3 transcription factor gene and multiple reported genes, including the same one (ASPL) found in the characteristic gene fusion of alveolar soft part sarcoma. 20438411 2010
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 Biomarker disease BEFREE Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma. 18176180 2008
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE Renal carcinomas associated with Xp11.2 translocations that result in fusions involving the TFE3 transcription factor gene have been delineated, including a distinctive neoplasm that shares the identical gene fusion as alveolar soft part sarcoma. 12973047 2003
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 Biomarker disease BEFREE Thirty-nine of 40 neoplasms characterized by TFE3 gene fusions (19 of 19 alveolar soft part sarcoma, 20 of 21 renal carcinomas) demonstrated moderate or strong nuclear TFE3 immunoreactivity. 12766578 2003
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents. 11438465 2001
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma
0.100 GeneticVariation disease BEFREE The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. 11244503 2001