Translocation Renal Cell Carcinoma
Research at Johns Hopkins
Dr. Pedram Argani described the Xp11 translocation renal cell carcinomas and the t(6;11) renal cell carcinomas in 2001. The Xp11 translocation renal cell carcinomas were accepted as distinctive entity by the 2004 World Health Organization (WHO) classification of renal neoplasia, while the t(6;11) renal cell carcinomas are recognized in the 2016 WHO renal tumor classification. Following Dr. Argani's initial discovery of these neoplasms, he has performed studies to delineate the clinical behavior of these neoplasms, as well as their responses to therapy. He has developed immunohistochemical and fluorescence in situ hybridization (FISH) assays which can be used to identify these neoplasms in routine pathology material. He has identified therapeutic targets in these neoplasms, such as C-met overexpression and mTOR pathway activation. Through his pathology consultation service, he maintains the world's largest documented collection of these neoplasms, and has created tissue microarrays harboring many of these neoplasms to expedite further molecular characterization. Dr. Argani's laboratory is actively searching for therapeutic targets in these neoplasms which will improve patient outcome.
Timeline of Research Discoveries on MiT Family Translocation Renal Cell Carcinoma (RCC) (Xp11 translocation RCC and t(6;11) RCC) At Johns Hopkins
Discovery of distinctive renal cell carcinomas with t(6;11)(p21:212) chromosome translocation resulting in Alpha-TFEB gene fusion [PMID11395386].
Cloning of CLTC-TFE3 gene fusion in Xp11 translocation RCC [PMID13917640]
Cloning of Alpha-TFEB gene fusion in t(6:11) RCC [PMID12719541]
Delineation of Xp11 translocation RCC in adults [PMID17667536]
Identification of mammalian target of rapamycin (mTOR) pathway as a therapeutic target in Xp11 translocation RCC [PMID20679884]
Development of TFE3 FISH assay for diagnosis of Xp11 translocation RCC in clinical material [PMID23715164]
Identification of mTOR pathway as a therapeutic target in t(6;11) translocation RCC [PMID24618616]
Delineation of a novel renal cell carcinoma characterized by amplification of the TFEB gene previously implicated in translocation renal cell carcinoma [PMID 27565001].
Genomic profiling of Xp11 translocation RCC by microRNA analysis
Identification of novel gene fusions in Xp11 cancers, and their relation to tumor phenotype (PEComa, Renal Cell Carcinoma, Melanotic Xp11 Renal Cancer) and clinical behavior
Creation of a Registry for Xp11 (TFE3) and t(6;11) Translocation cancers
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