Timeline of Discoveries

Timeline of Research Discoveries on MiT Family Translocation Renal Cell Carcinoma (RCC) (Xp11 translocation RCC and t(6;11) RCC) At Johns Hopkins

• 2001: Discovery of ASPL-TFE3 gene fusion in Xp11 translocation renal cell carcinoma (RCC) and description of its distinctive features [PMID1143865].
  Discovery of distinctive renal cell carcinomas with t(6;11)(p21:212) chromosome translocation resulting in Alpha-TFEB gene fusion [PMID11395386].
• 2002: Delineation of distinctive features of Xp11 translocation RCC with PRCC-TFE3 gene fusion [PMID12459622]
• 2003: Develop of TFE3 immunochemical assay for diagnosis of Xp11 translocation RCC in clinical material [PMID12766578]
  Cloning of CLTC-TFE3 gene fusion in Xp11 translocation RCC [PMID13917640]
  Cloning of Alpha-TFEB gene fusion in t(6:11) RCC [PMID12719541]
• 2004: Recognition of Xp11 translocation RCC as a distinctive entity by World Health Organization
• 2005: Development of TFEB immunohistochemistry assay for diagnosis of t(6;11) RCC in clinical material [PMID15644781]
• 2006: Discovery of the association of prior exposure to chemotherapy with development of Xp11 translocation RCC and t(6;11) translocation RCC [PMID16575003]
• 2007: Identification of MET as a therapeutic target in Xp11 translocation RCC [PMID17283122]
  Delineation of Xp11 translocation RCC in adults [PMID17667536]
• 2009: Discovery of melanotic (pigmented) Xp11 translocation renal cancers [PMID19065101]
• 2010: Discovery of perivascular epithelioid cell tumors (PEComas) with TFE3 gene fusions [PMID20871214]
  Identification of mammalian target of rapamycin (mTOR) pathway as a therapeutic target in Xp11 translocation RCC [PMID20679884]
• 2011: Identification of cathepsin k as a diagnostic marker and therapeutic target for Xp11 translocation RCC and t(6;11) translocation RCC [PMID21602817]
• 2012: Development of fluorescence in situ hybridization (FISH) assay for diagnosis of t(6;11) translocation RCC in clinical material [PMID2289260]
• 2013: Recognition of relatedness of Xp11 translocation RCC and t(6;11) translocation RCC in Vancouver classification of renal neoplasia [PMID24025519]; creation of category of MiT family translocation RCC
  Development of TFE3 FISH assay for diagnosis of Xp11 translocation RCC in clinical material [PMID23715164]
• 2014: Identification of prognostic impact of gene fusion status within Xp11 translocation RCC [PMID24309327]
  Identification of mTOR pathway as a therapeutic target in t(6;11) translocation RCC [PMID24618616]
• 2015: Description of utilization of partial nephrectomy in the treatment of translocation renal cell carcinoma [PMID25592300]
• 2016: Identification of specific clinicopathologic associations among Xp11 translocation cancers based upon the TFE3 fusion partner [PMID 26975036].
  Delineation of a novel renal cell carcinoma characterized by amplification of the TFEB gene previously implicated in translocation renal cell carcinoma [PMID 27565001].