Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1

SummaryNeurofibromatosis type 1 (NF1) is a familial tumour syndrome. Malignant tumours can arise in the nervous and non-nervous system in either childhood or adulthood, with malignant peripheral nerve sheath tumours being most common. Rhabdomyosarcoma and neuroblastoma are paediatric neoplasms that are more common in children with NF1 than in those without the syndrome. Gastrointestinal stromal tumours, somatostatinomas, breast cancer, and phaeochromocytomas are seen in adults with NF1. Several pathways are thought to be involved in the development of tumours associated with NF1: rat sarcoma viral oncogene homologue (RAS)–mitogen activated protein kinase (MAPK), mammalian target of rapamycin (mTOR), and P21 protein (Cdc42/Rac)–activated kinase 1 (PAK1). New insights into the pathogenesis of these tumours will lead to a better understanding of tumour origin and development and will hopefully allow the discovery of new and specific treatments.