Project description:Neurofibromatosis type 1 (NF1) is characterized by the development of benign nerve sheath tumors named plexiform neurofibromas (PNFs). In 10–15% of patients, these tumors undergo malignant transformation into aggressive malignant peripheral nerve sheath tumors (MPNSTs), which are associated with poor prognosis and limited treatment options. The cellular and molecular mechanisms driving this malignant progression remain poorly understood, hindering the development of effective therapies. To address this gap, we performed comprehensive single cell RNA sequencing on 9 PNF and 5 MPNST clinical samples.
Project description:Plexiform neurofibromas (PN) are benign nerve sheath Schwann cell tumors, common in patients with neurofibromatosis type 1 (NF1), that are characterized by biallelic mutations in the NF1 tumor suppressor gene. Atypical neurofibromas (ANF) show additional frequent loss of CDKN2A/Ink4a/Arf and may be precursor lesions of aggressive malignant peripheral nerve sheath tumors (MPNST). We combined loss of Nf1 in developing
