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Genomics of Peripheral Nerve Sheath Tumors Associated with Neurofibromatosis Type 1

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Multidisciplinary Approach to Neurofibromatosis Type 1

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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.

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Acknowledgements

We thank members of our labs for insightful discussions. We apologize to colleagues whose work could not be cited due to space limitation. The primary research in our laboratories for the topic of this review is supported by grants from: the Neurofibromatosis Therapeutic Acceleration Program (NTAP)- Johns Hopkins University School of Medicine. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the Johns Hopkins University School of Medicine; the Spanish Ministry of Science and Innovation, Carlos III Health Institute (ISCIII) (PI14/00577; PI16/00563, PI17/00524; PI19/00553, and CIBERONC) Plan Estatal de I. D. i 2013–16 and co-financed by the FEDER program—a way to build Europe—; the Government of Catalonia (2017SGR496) and CERCA Program/Generalitat de Catalunya; the Fundación PROYECTO NEUROFIBROMATOSIS, the Fundació La Marató de TV3; the NF Research Initiative -Boston Children’s Hospital.

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  1. Hereditary Cancer Group, The Institute for Health Science Research Germans Trias i Pujol (IGTP), CIBERONC, Can Ruti Campus, Barcelona, Spain

    Eduard Serra & Bernat Gel

  2. Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL-CIBERONC), L’Hospitalet de Llobregat, Barcelona, Spain

    Juana Fernández-Rodríguez & Conxi Lázaro

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  1. Eduard Serra
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  1. Center for Inherited Cutaneous Diseases, University of Milan, Milan, Milano, Italy

    Gianluca Tadini

  2. Center for Human Genetics, Universitaire Ziekenhuizen Leuven Center for Human Genetics, Leuven, Oost-Vlaanderen, Belgium

    Eric Legius

  3. Department of Human Genetics, KU Leuven, Leuven, Belgium

    Hilde Brems

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Serra, E., Gel, B., Fernández-Rodríguez, J., Lázaro, C. (2020). Genomics of Peripheral Nerve Sheath Tumors Associated with Neurofibromatosis Type 1. In: Tadini, G., Legius, E., Brems, H. (eds) Multidisciplinary Approach to Neurofibromatosis Type 1. Springer, Cham. https://doi.org/10.1007/978-3-319-92450-2_9

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