Seventh BHD international symposium: recent scientific and clinical advancement.

Mark R Woodford,Neil Rajan,Roberto Zoncu,Romain Lazor,Mehdi Mollapour,Chiara Di Malta,Othon Iliopoulos,Laura S Schmidt,Irma Van De Beek,Anna Webb,Wei Shi,W Marston Linehan,Arnim Pause,Yukiko Namba,Elizabeth P Henske,Anindita Ray,Ortrud K Steinlein,Hannah Grimes,Stefan J Marciniak,Masatoshi Kurihara,Julia Thierauf,Avgi Andreou,Iris E Glykofridis ,Kyoichi Matsumoto ,Baba M

doi:10.18632/oncotarget.28176

Abstract

The 7th Birt-Hogg-Dubé (BHD) International Symposium convened virtually in October 2021. The meeting attracted more than 200 participants internationally and highlighted recent findings in a variety of areas, including genetic insight and molecular understanding of BHD syndrome, structure and function of the tumor suppressor Folliculin (FLCN), therapeutic and clinical advances as well as patients’ experiences living with this malady.

Highlights

The last in-person BHD symposium was organized by Dr Gennady Bratslavsky & Dr Mehdi Mollapour (SUNY Upstate Medical University, USA) and held in Syracuse, NY, USA in 2015
The meeting attracted more than 200 participants internationally and highlighted recent findings in a variety of areas, including genetic insight and molecular understanding of BHD syndrome, structure and function of the tumor suppressor Folliculin (FLCN), therapeutic and clinical advances as well as patients’ experiences living with this malady
Dr Roberto Zoncu (University of California at Berkeley, USA) presented recent structural and functional data on the lysosomal folliculin complex (LFC), consists of a lysosomelocalized protein complex that includes FLCN, FNIP2, Rag GTPases and Ragulator. He discussed the putative role for the LFC as a checkpoint that enables mTORC1-dependent phosphorylation of the transcription factor TFEB, and how LFC disruption upon FLCN loss may contribute to the pathogenesis of BHD syndrome

Summary

Introduction

The last in-person BHD symposium was organized by Dr Gennady Bratslavsky & Dr Mehdi Mollapour (SUNY Upstate Medical University, USA) and held in Syracuse, NY, USA in 2015. Dr Linehan further demonstrated the development of a surgical management approach for patients with BHD-associated renal cell carcinoma that involves active surveillance until the largest renal tumor reaches the 3 cm threshold [4, 8]. In order to provide the foundation for the development of a therapeutic approach for treatment of BHD patients, his group has studied the FLCN gene pathway and identified FLCN-interacting binding partners, co-chaperones FNIP1 and FNIP2, and shown that FLCN regulates activation and nuclear translocation of TFE3 [9–19].

Results

Conclusion