Overview

NCI Definition: A renal cell carcinoma (RCC) usually seen in children or young adults. It is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with translocations/gene fusions involving members of the MiT family of transcription factors, including TFE3 and TFEB. There are two subtypes; RCCs associated with Xp11 translocations and TFE3 gene fusions and RCCs with t(6:11) translocations resulting in MALAT1-TFEB gene fusions. [1]

Translocation-associated renal cell carcinomas most frequently harbor alterations in TFE3, ASPSCR1, RBM10, PRCC, and CDKN2B [2].

TFE3 Fusion, ASPSCR1-TFE3 Fusion, PRCC-TFE3 Fusion, CDKN2B Loss, and CDKN2A Loss are the most common alterations in translocation-associated renal cell carcinoma [2].

Significant Genes in Translocation-Associated Renal Cell Carcinoma

Disease Details

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.