Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE We report a child who developed a TFE3/Xp11.2 translocation renal cell carcinoma (RCC) when he was 3 years and 3 months old, after previous treatment for infantile fibrosarcoma (IFS). 28478739 2019
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE CA-IX is a good marker to distinguish clear cell renal cell carcinoma with TFE3 strong positive immunostaining from Xp11 translocation renal cell carcinoma. 31175325 2019
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE A novel partner of TFE3 in the Xp11 translocation renal cell carcinoma: clinicopathological analyses and detection of EWSR1-TFE3 fusion. 30552521 2019
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE The purpose of this study was to investigate the pathogenic mechanism of TFE3 fusions in tRCC based on its subcellular localization, nuclear translocation and transcriptional activity. 30849994 2019
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE TFE3 Xp11.2 Translocation Renal Cell Carcinoma Mouse Model Reveals Novel Therapeutic Targets and Identifies GPNMB as a Diagnostic Marker for Human Disease. 31043488 2019
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE Using targeted RNA-sequencing, TFE3 fusion gene partners were identified in 5 cases of TFE3 immunohistochemistry positive translocation renal cell carcinoma. 30622287 2019
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE A Rare Partner of TFE3 in the Xp11 Translocation Renal Cell Carcinoma: Clinicopathological Analyses and Detection of MED15-TFE3 Fusion. 31828108 2019
MiT family translocation renal cell carcinoma
0.400 GeneticVariation disease BEFREE Microphthalmia Transcription Factor (MITF)family translocation renal cell carcinoma (tRCC) is a rare RCC subtype harboring TFE3/TFEB translocations. 30591082 2018
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE To demonstrate that patients with Xp11.2/TFE3 gene-fusion translocation renal cell carcinoma (RCC), despite having an aggressive course in young adults, could have valid treatment options such as mammalian target of rapamycin (mTOR) inhibitors with good outcomes. 29702156 2018
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE Upregulation of PI3/AKT/mTOR pathway in additional TFE3-tRCC models was confirmed by significantly higher expression of phospho-S6 (<i>P</i> < 0.0001) and phospho-4EBP1 (<i>P</i> < 0.0001) in established tRCC cell lines compared with clear cell RCC cells. 30061365 2018
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE Xp11 translocation renal cell carcinoma (RCC) with SFPQ/PSF-TFE3 gene fusion is a rare epithelial tumor. 28315422 2017
MiT family translocation renal cell carcinoma
0.400 GeneticVariation disease BEFREE Xp11 translocation renal cell carcinoma (RCC) are defined by chromosome translocations involving the Xp11 breakpoint which results in one of a variety of TFE3 gene fusions. 28296677 2017
MiT family translocation renal cell carcinoma
0.400 GeneticVariation disease BEFREE PRCC-TFE3 renal cell carcinoma (RCC) is one of the most common types of Xp11.2 translocation renal cell carcinoma (tRCC), of which the diagnosis mainly relies on reverse transcription-polymerase chain reaction (RT-PCR) or chromosomal analysis in fresh frozen samples. 28949976 2017
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE Immunohistochemical stains performed on the nephrectomy specimen showed tumor positivity for CD10, E-cadherin, a-methylacyl coenzyme A racemase, and TFE3 supporting the diagnosis of Xp11 translocation renal cell carcinoma. 28185421 2017
MiT family translocation renal cell carcinoma
0.400 AlteredExpression disease BEFREE We evaluated the frequency of translocation renal cell carcinoma (RCC) by reverse transcription polymerase chain reaction (RT-PCR) and how well the TFE3 immunoreactivity is concordant with TFE3 gene translocation status proved by fluorescence in situ hybridization (FISH) assay and RT-PCR. 28415646 2017
MiT family translocation renal cell carcinoma
0.400 AlteredExpression disease BEFREE Translocation renal cell carcinoma (tRCC) is a rare subtype of kidney tumour characterized by translocations involving the transcription factor TFE3 or TFEB. tRCC was introduced into the World Health Organization classification in 2004, but much is still unknown about the natural history, clinicopathological features and outcomes of the disease. 28106924 2017
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE Clinicopathological characteristics of Xp11.2 translocation renal cell carcinoma in adolescents and adults: Diagnosis using immunostaining of transcription factor E3 and fluorescence in situ hybridization analysis. 26563505 2016
MiT family translocation renal cell carcinoma
0.400 GeneticVariation disease BEFREE Importantly, reverse transcriptase-PCR showed concordant results with the results of FISH assay in the 8 available frozen cases.The break-apart and ASPL-TFE3 dual-fusion FISH assay can accurately detect the translocation of the TFE3 gene and ASPL-TFE3 fusion gene and can thus serve as a valid complementary method for diagnosing Xp11.2 tRCC and ASPL-TFE3 RCC. 25984679 2015
MiT family translocation renal cell carcinoma
0.400 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
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma. 26045774 2015
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE Metastatic ASPS was confirmed by demonstration of an ASPSCR1-TFE3 fusion and imaging studies that excluded metastatic Xp11.2 translocation renal cell carcinoma. 25268941 2015
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE The application of TFE3 IHC stain will improve the diagnostic accuracy for detecting XP11.2 translocation renal cell carcinoma. 25002378 2014
MiT family translocation renal cell carcinoma
0.400 FusionGene disease ORPHANET Review of renal carcinoma with t(6;11)(p21;q12) with focus on clinical and pathobiological aspects. 23426439 2013
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE The TFE3 tRCC could be clearly distinguished from the ccRCCs by RNA-Seq gene expression measurements using a previously reported tRCC gene signature. 24339735 2013
MiT family translocation renal cell carcinoma
0.400 Biomarker disease BEFREE Our results reveal genomic heterogeneity of tRCC with similarities to other renal tumor subtypes and raise important questions about the role of TFEB/TFE3 translocations and other chromosomal imbalances in tRCC biology. 23817689 2013