While the mutational and transcriptional landscapes of renal cell carcinoma (RCC) are well-known, the epigenome is poorly understood. We characterize the epigenome of clear cell (ccRCC), papillary (pRCC), and chromophobe RCC (chRCC) by using ChIP-seq, ATAC-Seq, RNA-seq, and SNP arrays. We integrate 153 individual data sets from 42 patients and nominate 50 histology-specific master transcription factors (MTF) to define RCC histologic subtypes, including EPAS1 and ETS-1 in ccRCC, HNF1B in pRCC, and FOXI1 in chRCC. We confirm histology-specific MTFs via immunohistochemistry including a ccRCC-specific TF, BHLHE41. FOXI1 overexpression with knock-down of EPAS1 in the 786-O ccRCC cell line induces transcriptional upregulation of chRCC-specific genes, TFCP2L1, ATP6V0D2, KIT, and INSRR, implicating FOXI1 as a MTF for chRCC. Integrating RCC GWAS risk SNPs with H3K27ac ChIP-seq and ATAC-seq data reveals that risk-variants are significantly enriched in allelically-imbalanced peaks. This epigenomic atlas in primary human samples provides a resource for future investigation.

Behçet's disease (BD) or syndrome is a chronic, recurrent, multisystem, inflammatory vasculitis disorder of unknown etiology with classic triad of oral aphthous ulcers, genital ulcers, and uveitis. Gastrointestinal involvement in BD usually presents with chronic diarrhea, hematochezia as the disease affects ileocecal area which might be similar to presentation of inflammatory bowel diseases. Here, we report a case of undiagnosed BD who presented with chronic diarrhea for 4 months, leading to the diagnosis of BD and responded well to corticosteroid therapy. Learning Points• Behcet's disease is diagnosed by the presence of recurrent oral aphthae at least three times in a year plus two of the following: recurrent genital aphthae, uveitis, skin lesions and a positive Pathergy test. • No pathognomonic test can be used to make definite diagnosis.• The most common GI symptoms include abdominal pain, nausea, vomiting, diarrhoea and gastrointestinal bleeding.

Behçet's disease (BD) or syndrome is a chronic, recurrent, multisystem, inflammatory vasculitis disorder with findings of oral aphthous ulcers, genital ulcers, and uveitis. Gastrointestinal (GI) involvement can be the initial presentation as presented in this case.

No abstract