Histological subtypes of RCC show unique chromosomal abnormalities
Clear Cell RCC nodular growth with areas of hemorrhage and necrosis
Papillary RCC solid white mass
Trisomy 7 and
17, loss of Y
RCC expansile mass with a solid yellowbrown cut surface
Loss of multiple chromosomes
1, 2, 6, 10,
ccRCC lines show lack of solid tumor hallmarks such as
RAS, BRAF, TP53, PTEN and EGFR
Inactivation of the VHL is not sufficient to cause ccRCC in mice
ccRCC is characterized by LOH of chromosome 3
International Journal of Cancer
Volume 125, Issue 10, pages 2342-2348, 11 JUN 2009 DOI: 10.1002/ijc.24642
Histones organize DNA, regulate expression, and can be modified
During transcription, histones are transiently both modified and exchanged
SETD2 is a non-redundant H3K36specific trimethyltransferase
SETD2 regulates cryptic transcription at internal exons
SETD2 is necessary for chromatinremodeler FACT’s recruitment
Knockdown of SETD2 decreases H2B occupancy in internal exons
Loss of SETD2 affects vascular remodeling in mice
Changes in SETD2 alter global gene expression
Kleymenova, E. "Susceptibility to Vascular Neoplasms but No Increased Susceptibility to Renal Carcinogenesis in
Vhl Knockout Mice." Carcinogenesis 25.3 (2003): 309-15.
Duns, Gerben, Inge Van Duivenbode, Jan Osinga, Harrie Hollema, Eva Van Den Berg-De Ruiter, Robert M.W.
Hofstra, and Klaas Kok. "Histone Methyltransferase Gene SETD2, a Novel Tumor Suppressor Gene in Clear Cell
Renal Cell Carcinoma."Cancer Genetics and Cytogenetics 203.1 (2010): 45.
Buning, Ruth, Wiepke Koopmans, Heinz Neumann, Jason Chin, and John Van Noort. "Regulation of Nucleosome
Conformational Dynamics by Post-Translational Histone Modifications Studied with Single-Pair
FRET." Biophysical Journal 98.3 (2010): 475a.
Berger, S.L. The complex language of chromatin regulation during transcription. Nature 447, 407–412
Carvalho, Sílvia, et al. "Histone methyltransferase SETD2 coordinates FACT recruitment with nucleosome dynamics during transcription." Nucleic acids research 41.5 (2013): 2881-2893.
"Pathology of Clear Cell Renal Cell Carcinoma ." Pathology of Clear Cell Renal Cell Carcinoma. N.p., n.d. Web. 17
Hu, M., X.-J. Sun, Y.-L. Zhang, Y. Kuang, C.-Q. Hu, W.-L. Wu, S.-H. Shen, T.-T. Du, H. Li, F. He, H.-S. Xiao, Z.-G.
Wang, T.-X. Liu, H. Lu, Q.-H. Huang, S.-J. Chen, and Z. Chen. "Histone H3 Lysine 36 Methyltransferase
Hypb/Setd2 Is Required for Embryonic Vascular Remodeling." Proceedings of the National Academy of
Sciences 107.7 (2010): 2956-961.
Sun, X.-J. "Identification and Characterization of a Novel Human Histone H3 Lysine 36-specific
Methyltransferase." Journal of Biological Chemistry 280.42 (2005): 35261-5271.
Chen, Meng, et al. "Genome‐wide profiling of chromosomal alterations in renal cell carcinoma using high‐density single nucleotide polymorphism arrays."International Journal of Cancer 125.10 (2009): 2342-2348.