Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Perivascular Epithelioid Cell Neoplasms
0.100 Biomarker group BEFREE A novel RBMX-TFE3 gene fusion in a highly aggressive pediatric renal perivascular epithelioid cell tumor. 31408245 2019
Perivascular Epithelioid Cell Neoplasms
0.100 AlteredExpression group BEFREE The PEComa-like tumor showed strong Melan-A and weak transcription factor E3 (TFE3) protein expression but no TFE3 gene rearrangement. 30876389 2019
Perivascular Epithelioid Cell Neoplasms
0.100 GeneticVariation group BEFREE We are the first to report the results of molecular assays for the TFE3 gene rearrangement associated with gastric PEComa. 31141597 2019
Perivascular Epithelioid Cell Neoplasms
0.100 Biomarker group BEFREE Despite cathepsin K, MITF and CD68 staining are known to be positive in a large number of PEComas and TFE3 rearrangement has been reported in a subset of PEComas, no data is available regarding the expression of these markers and the occurrence of TFE3 and TFEB rearrangement in clear cell "sugar" tumor of the lung. 29516164 2018
Perivascular Epithelioid Cell Neoplasms
0.100 Biomarker group BEFREE Awareness of this morphologic pitfall and recognition of TFE3 gene-rearranged PEComa, as a distinct subtype of PEComa, is essential to avoid misdiagnosis. 29208563 2018
Perivascular Epithelioid Cell Neoplasms
0.100 Biomarker group BEFREE Herein, we present a case of a TFE3-rearranged PEComa without the customary morphology that required ancillary investigation with TFE3 immunohistochemistry and break-apart fluorescence in situ hybridization for proper categorization. 29626599 2018
Perivascular Epithelioid Cell Neoplasms
0.100 GeneticVariation group BEFREE The corresponding mesenchymal neoplasms, including Xp11 neoplasm with melanocytic differentiation, TFE3 rearrangement-associated perivascular epithelioid cell tumor (PEComa) and melanotic Xp11 translocation renal cancer, can also harbor the identical gene fusion. 28315422 2017
Perivascular Epithelioid Cell Neoplasms
0.100 Biomarker group BEFREE The tumor had morphologic features matching those of other previously described TFE3-translocated PEComas, including epithelioid morphology, diffuse and strong nuclear immunoreactivity for TFE3, and minimal staining with myoid markers. 27189222 2017
Perivascular Epithelioid Cell Neoplasms
0.100 AlteredExpression group BEFREE TFE3 also appeared to be overexpressed in 6 (21%) of 26 hepatic AMLs and 3 (100%) of 3 PEComas, but in none of the renal AMLs. 27865795 2017
Perivascular Epithelioid Cell Neoplasms
0.100 GeneticVariation group BEFREE Here we describe a case of a melanotic PEComa with NONO-TFE3 fusion occurring in the sinonasal mucosa, as demonstrated by both next-generation sequencing and molecular cytogenetic studies. 28009605 2017
Perivascular Epithelioid Cell Neoplasms
0.100 Biomarker group BEFREE There are noted similarities between that entity and TFE3 associated PEComas. 28969862 2017
Perivascular Epithelioid Cell Neoplasms
0.100 Biomarker group BEFREE A distinct subset of deep-seated PEComas has been shown to carry TFE3 fusions. 26385848 2016
Perivascular Epithelioid Cell Neoplasms
0.100 GeneticVariation group BEFREE We also describe the first RCC with a DVL2-TFE3 gene fusion, in addition to an extrarenal pigmented PEComa with a NONO-TFE3 gene fusion. 26975036 2016
Perivascular Epithelioid Cell Neoplasms
0.100 GeneticVariation group BEFREE Recently, an increasing number of TFE3 rearrangement-associated tumours have been reported, such as TFE3 rearrangement-associated perivascular epithelioid cell tumours (PEComas), melanotic Xp11 translocation renal cancers and melanotic Xp11 neoplasms. 26844676 2016
Perivascular Epithelioid Cell Neoplasms
0.100 Biomarker group BEFREE Rheb/mTOR/p70s6k Cascade and TFE3 Expression in Conventional and Sclerosing PEComas of the Urinary Tract. 26258755 2016
Perivascular Epithelioid Cell Neoplasms
0.100 GeneticVariation group BEFREE We examined 12 such cases, including 5 TFE3 rearrangement-associated PEComas located in the pancreas, cervix, or pelvis and 7 melanotic Xp11 translocation renal cancers, using clinicopathologic, immunohistochemical, and molecular analyses. 26274027 2015
Perivascular Epithelioid Cell Neoplasms
0.100 Biomarker group BEFREE Our results showed that TFE3-rearranged PEComas lacked coexisting TSC2 mutations, indicating alternative pathways of tumorigenesis. 25651471 2015
Perivascular Epithelioid Cell Neoplasms
0.100 GeneticVariation group BEFREE TFE3 translocation-associated perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: morphology, immunophenotype, differential diagnosis. 25517951 2015
Perivascular Epithelioid Cell Neoplasms
0.100 GeneticVariation group BEFREE In summary, unusual cases of PEComa with TFE3 gene rearrangement might present malignant histological features and aggressive clinical behavior. 25239799 2014
Perivascular Epithelioid Cell Neoplasms
0.100 Biomarker group BEFREE All these clinicopathologic features are suggestive of TFE3-rearranged PEComas of the cervix. 25337301 2014
Perivascular Epithelioid Cell Neoplasms
0.100 GeneticVariation group BEFREE This report adds to the known data regarding urinary bladder PEComas and PEComas with TFE3 rearrangement, indicating that both can pursue an aggressive course. 23797724 2013
Perivascular Epithelioid Cell Neoplasms
0.100 Biomarker group BEFREE We report, for the first time, a unique case of TFE3-positive PEComa presenting as acute appendicitis in a 24-year-old woman. 23451753 2013
Perivascular Epithelioid Cell Neoplasms
0.100 GeneticVariation group BEFREE We immunohistochemically analysed 17 cases of primary cutaneous PEComas for TFE3, and five of them also for SOX-10, and also analysed them by FISH for TFE3 rearrangement. 23711163 2013
Perivascular Epithelioid Cell Neoplasms
0.100 Biomarker group BEFREE This is the first reported case of renal eAML/PEComa with a TFE3 gene break, and it has unique histological findings as compared to previously reported TFE3 gene fusion-positive PEComas. 23224603 2012
Perivascular Epithelioid Cell Neoplasms
0.100 GeneticVariation group BEFREE None of the other 24 PEComas (mean patient age 54 y) showed TFE3 gene alterations, though 4 exhibited moderate positive (2+) TFE3 immunoreactivity. 20871214 2010