New BHD case study – chronic peritoneal inflammation masquerading as metastatic RCC

Kam et al., 2017 report the case of a  50-year-old male presenting with bilateral renal tumours, suspicious for renal cell carcinoma (RCC), and peritoneal thickening and nodules on a CT scan. His medical history included psoriasis and appendicectomy. Physical examination revealed nodules on his face.

CT-guided biopsy of his renal lesions was consistent with chromophobe RCC for which he underwent surgery. Histopathology revealed multifocal hybrid oncocytoma and chromophobe RCC. The tumours were consistent with BHD and genetic testing identified a FLCN gene mutation to confirm the BHD diagnosis.

The patient also presented chronic peritoneal inflammation which could point to metastatic RCC. His CT scan showed the presence of mild peritoneal thickening and a bone scan and CT showed no evidence of metastatic disease.

This is the first reported case of chronic peritoneal inflammation masquerading as metastatic RCC in BHD. The case demonstrates the importance of biopsy and further tests when the presence of peritoneal metastatic disease is unclear.

The cause of the chronic peritoneal inflammation is still unclear and may be related to the molecular genetics of BHD with FLCN possibly interacting with inflammatory signalling.

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