Amsterdam UMC is the national referral center in the Netherlands for patients with the rare hereditary cancer syndrome Birt–Hogg–Dubé. A collaboration within Amsterdam UMC between Arjan Houweling in the clinic and the research groups of Connie Jimenez and Rob Wolthuis at Cancer Center Amsterdam is an excellent example of our bench to bedside and vice versa philosophy to find new effective therapies against cancer. Results from this collaboration were recently published in eLife.

Hereditary mutations in the Folliculin (FLCN) tumor suppressor gene cause Birt–Hogg–Dubé syndrome, a rare disorder predisposing carriers to kidney tumors. FLCN is an essential gene linked to diverse cellular processes but the mechanism by which FLCN prevents kidney cancer remains unknown. Iris Glykofridis and colleagues utilized CRISPR technology to compare normal renal cells with renal cells that lack FLCN. They discovered that FLCN is involved in two important biological processes controlling different gene expression programs associated with interferon-stimulated response elements, or metabolic activity and autophagy. These results provide more mechanistic insights into renal cancer development, and pinpoint potential biomarkers which may be of translational value for Birt-Hogg-Dubé patients.

For more information, see: Glykofridis, I.E. et al. (2021) eLife;10:e61630 DOI: 10.7554/eLife.61630