Genomics of Peripheral Nerve Sheath Tumors Associated with Neurofibromatosis Type 1

Abstract

One of the major clinical complications of Neurofibromatosis type 1 patients is the development of different tumors of the peripheral nervous system, like neurofibromas or malignant peripheral nerve sheath tumors. Here, we first make a wide description of these tumors, summarizing information on the natural history, biological composition, molecular pathogenesis and treatment. In the second part, we compile the contribution of genomic studies to the understanding of the molecular pathogenesis of these tumors. We try to describe a general view in aspects such as the genomic structure, recurrent genomic alterations, the mutational landscape, alterations in gene expression, information relevant for the clinics and its comparison to other soft tissue sarcomas. Genomics and bioinformatics facilitated a change in the scale of molecular analysis. There is still a lack of a comprehensive view on how genomics impacted on the NF1 field and in particular to the knowledge gained on the molecular pathogenesis of associated tumors. This chapter intends to contribute to fill this gap.