Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The ASPL-TFE3 fusion replaces the N-terminal portion of TFE3 by the fused ASPL sequences, while retaining the TFE3 DNA-binding domain, implicating transcriptional deregulation in the pathogenesis of this tumor, consistent with the biology of several other translocation-associated sarcomas.Oncogene (2001) 20, 48 - 57. 11244503 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group 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: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The most distinctive immunohistochemical feature of these neoplasms was moderate to intense nuclear labeling for TFE3 protein. 12459622 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Four genes in our study were CMRI-H and could thus possibly play a role in the development of MSI-H tumors: TFE3 (9/38), TEF4 (12/38), RGS12 (11/38), and TCF1 (12/38). 12461749 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group 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: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE In contrast, only 6 of 1476 other neoplasms labeled for TFE3 (sensitivity 97.5%, specificity 99.6%). 12766578 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Reverse transcriptase-polymerase chain reaction (RT-PCR) and sequence analysis demonstrated reciprocal ASPL-TFE3 and TFE3-ASPL fusion transcripts in the retroperitoneal tumor, cultured FU-UR-1 cells and xenografted tumors. 15138551 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The large proportion of TFE3 "translocation" carcinomas and "unclassified" carcinomas in the first two decades of life demonstrates that renal cell carcinomas in young patients contain genetically and phenotypically distinct tumors with further potential for novel renal cell carcinoma subtypes. 15316311 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE We report the case of a 58-year old patient, showing a solid image in the right kidney, who underwent radical nephrectomy that revealed neoplasia, whose pathological study led to the diagnosis of kidney carcinoma associated with Xp11.2 translocation / TFE3 (ASPL-TFE3) gene fusion. 15992428 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The tumor showed nuclear labeling for TFE3 protein by immunohistochemistry, supporting the above diagnosis. 16807766 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE (4) One patients with a TFE3+ and MITF+ tumor and 66-87,XXY,der(1)t(1;8)del(4)(q?) der(11)t(11;15)der17t(X;17 abnormalities died 9 months after diagnosis. 16880148 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE We examined a cohort of patients with alveolar soft part sarcoma (ASPS) treated at our institution and showed the characteristic ASPSCR1-TFE3 fusion transcript in their tumors. 18094412 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE No expression of ASPL-TFE3 fusion transcripts was detectable in all 38 control tumors. 18382356 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Oxalate crystal deposition was observed in the stroma and the tumor focally resembled translocation type (TFE3) RCC. 18785115 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE None of the 14 neoplasms showed immunoreactivity for TFE3. 18779729 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE One tumor, currently at passage 6, has been maintained in vivo for 32 months and has maintained characteristics consistent with those of the original ASPS tumor including (1) tumor histology and staining with periodic acid Schiff/diastase, (2) the presence of the ASPL-TFE3 type 1 fusion transcript, (3) nuclear staining with antibodies to the ASPL-TFE3 type 1 fusion protein, (4) maintenance of the t(X;17)(p11;q25) translocation characteristic of ASPS, (5) stable expression of signature ASPS gene transcripts and finally, the development and maintenance of a functional vascular network, a hallmark of ASPS. 19636271 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Immunohistochemical evaluation revealed that the tumor cells showed nuclear labeling for TFE3 protein. 19298350 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The morphologic and immunohistochemical discrepancies between this intriguing melanotic tumor and other documented renal cell carcinomas bearing identical PSF-TFE3 gene fusion may suggest melanotic Xp11 translocation renal cancer is a distinct entity among the MiT/TFE family neoplasms. 19809274 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The aim of the present study was to figure out in two pediatric RCC recently diagnosed in our department (one clear cell-type RCC and one TFE3-positive RCC) whether those features are indeed specific of the latter tumor or occur in pediatric RCC irrespective of the tumor type. 19246164 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE (3) These results further support the concept that the overexpression of TFE3 or TFEB in these neoplasms activates the expression of genes normally regulated by microphthalmia transcription factor in other cell types. 19396149 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE These neoplasms represent the first documented examples in which TFE3 gene fusions coexist with melanin production, and their identification raises the possibility that TFE3 gene fusions may underlie an aggressive subset of lesions currently classified as PEComa in young patients. 19065101 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE These epithelioid cells were immunohistochemically positive for vimentin, gp100 (detected with monoclonal antibody HMB-45), and TFE3, and the tumor was diagnosed as PEComa. 19606011 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE TFE3 and Cathepsin K remain the most sensitive and specific markers of these neoplasms. 20679884 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Recently, aberrant immunoreactivity for TFE3 protein (a sensitive and specific marker of neoplasms harboring TFE3 gene fusions) has been reported in as many as 100% of PEComas; however, TFE3 gene status in these neoplasms has not been systematically investigated. 20871214 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Diagnostic tools to detect translocations involving the TFE3 gene on chromosome X would be valuable in the evaluation of these tumors. 20421778 2010