Home > Oncology > ASCO GU 2022 > Renal Cell Carcinoma > Folliculin mutations not associated with sporadic chromophobe RCC

Folliculin mutations not associated with sporadic chromophobe RCC

Presented By
Dr Joseph Jacob, Upstate University Hospital, NY, USA

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Conference
ASCO GU 2022
In contrast to inherited chromophobe renal cell carcinoma (RCC) in the Birt-Hogg-Dubé syndrome, clinically sporadic chromophobe RCC is not associated with mutations in folliculin. Folliculin (FLCN) is a tumour suppressor gene associated with cutaneous hair follicle development. FLCN germline mutations are linked to inherited chromophobe RCC in the Birt-Hogg-Dubé syndrome. Whether clinically sporadic chromophobe RCC also features FLCN mutations is not yet clear. Therefore, Dr Joseph Jacob (Upstate University Hospital, NY, USA) and colleagues evaluated genomic profiles of chromophobe RCC and compared them with genomic profiles of clear-cell RCC [1]. A total of 109 clinically sporadic chromophobe RCC and 5,862 clear-cell RCC samples were subjected to hybrid-capture based comprehensive genomic profiling to evaluate all classes of genomic alterations. In addition, tumour mutational burden (TMB), microsatellite instability (MSI...


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