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SQSTM1/p62 accumulation is a hallmark of FLCN loss in Birt-Hogg-Dube syndrome-associated kidney cancer

Ullern, H.; Johannessen, J. A.; Kasikci, F.; Formica, M.; Melve, N. K.; Andresen, S.; Brech, A.; Axcrona, K.; Jorgensen, K.; Farkas, L.; Enserink, J. M.; Knaevelsrud, H.

2026-01-14 cancer biology
10.64898/2026.01.14.699334 bioRxiv
Show abstract

Birt-Hogg-Dube syndrome (BHD) is an autosomal, dominant condition caused by Folliculin (FLCN) mutation and characterized by enhanced risk for kidney tumors. Previous studies have shown constitutive nuclear localization of the transcription factor TFEB and simultaneous hyperactivation of canonical MTORC1 signaling in the absence of FLCN. Here we assess the impact on autophagy under this situation of combined anabolic and catabolic activation. Using an established BHD patient-derived kidney cancer cell line, we confirmed that TFEB was permanently localized in the nucleus combined with an increase in canonical MTORC1 signaling, whereas bulk autophagy flux and LC3 lipidation was unaffected by FLCN status. However, we found that the autophagy receptor SQSTM1/p62 accumulated in enlarged puncta in the absence of FLCN. Finally, we recapitulate these findings in a Norwegian cohort of BHD kidney tumor samples. Our results demonstrate SQSTM1/p62 accumulation as a hallmark of FLCN loss, although SQSTM1/p62 appeared dispensable for anchorage-independent growth.

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