Analysis of Peripheral Nerve Sheath Tumors (PNSTs) in Neurofibromatosis Type 1 (NF1) Patients
|ClinicalTrials.gov Identifier: NCT01218139|
Recruitment Status : Unknown
Verified October 2010 by Katholieke Universiteit Leuven.
Recruitment status was: Active, not recruiting
First Posted : October 11, 2010
Last Update Posted : October 11, 2010
Neurofibromatosis type 1 (NF1) is a frequent, autosomal dominant disorder caused by heterozygous mutations (intragenic or microdeletion) of the NF1 tumor suppressor gene (chr.17q11.2). One of the clinical features is the development of benign and malignant tumors. The most common benign tumors in these patients are tumors of the peripheral nerve sheath, named neurofibromas (cutaneous, subcutaneous and plexiform). Every NF1 patient has a life time risk of 8 to 13% of developing a malignant peripheral nerve sheath tumor (MPNST) out of a pre-existing neurofibroma. In patients with a NF1 microdeletion (5% of NF1 patients), this risk is even twice as high compared to patients with an intragenic mutation. MPNSTs lead to a bad prognosis for the patient, with an overall five-year survival of less than 25%. To know more about the development and progression of these tumors, they will be screened by microarray comparative genome hybridization (Leuven) and full exome sequencing (Leuven). Further experiments will be done in cooperation (bidirectional) with the foreign labs of Victor Mautner (Germany), André Bernards (USA), Karen Cichowski (USA) and Yuan Zhu (USA).
For all these experiments, we will make use of tumoral rest material removed from NF1 patients.
|Condition or disease|
|Neurofibromatosis Type 1|
Show Detailed Description
|Study Type :||Observational|
|Estimated Enrollment :||50 participants|
|Official Title:||Analysis of Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1 Patients|
|Study Start Date :||September 2007|
|Primary Completion Date :||September 2010|
|Estimated Study Completion Date :||December 2010|
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01218139
|Leuven, Vlaams-Brabant, Belgium, 3000|
|Principal Investigator:||Eric Legius, MD PhD||Katholieke Universiteit Leuven|