Piotr TopilkoDr Institut Mondor de Recherche Biomédicale, Hôpital Henri Mondor, France
Schwann cell metamorphosis in type 1 neurofibromatosis, by Piotr Topilko
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Summary: Schwann cell metamorphosis in type 1 neurofibromatosis
Neurofibromatosis type 1 (NF1) is one of the most common (1/3000 births) rare genetic disorders caused by mutations in the NF1 tumor suppressor gene. Nearly all NF1 patients develop benign nerve sheath tumors called neurofibromas (NFs) which number may reach into the thousands. In addition, some NFs progress into malignant peripheral nerve sheath tumors (MPNST) that are invariably lethal. Despite important advances in deciphering mechanisms driving development of NFs and their malignant transformation there is still no treatment options to block development of neurofibromas or to prevent their malignant transformation. In this context we have set up unique GEM model that faithfully recapitulates development of benign and malignant neurofibromas. Exploring this model allowed us to perform important discoveries concerning the cells at the origin of NFs, the role of inflammation in development of those tumors, the new mechanism driving malignant transformation and pave the way for development of new therapeutics to defeat this devastating disease.
Dr Topilko’s Minibiography
Piotr Topilko is an internationally recognized expert in the field of Schwann cell biology and NF1. He leads outstanding research on Schwann cells, neural crest-derived boundary cap (BC) cells and more recently Neurofibromatosis type 1 (NF1). He identified BCs as cells at the origin of the nerve sheath tumors, called neurofibromas in NF1. His team recently set up NF1 mouse models which has led to substantial progress in the understanding of development of neurofibromas, including their malignant transformation and are used for drug screening studies.