Analysis of Peripheral Nerve Sheath Tumors (PNSTs) in Neurofibromatosis Type 1 (NF1) Patients

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. 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
Information provided by:
Katholieke Universiteit Leuven

Brief Summary:

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
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Analysis of Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1 Patients
Study Start Date : September 2007
Actual Primary Completion Date : September 2010
Estimated Study Completion Date : December 2010

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
population of NF1 patients, seen by prof. Eric Legius, who are having surgery to remove a tumor

Inclusion Criteria:

NF1 patient

Exclusion Criteria:

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01218139

Leuven, Vlaams-Brabant, Belgium, 3000
Sponsors and Collaborators
Katholieke Universiteit Leuven
Principal Investigator: Eric Legius, MD PhD Katholieke Universiteit Leuven

Responsible Party: Eric Legius, KUL Identifier: NCT01218139     History of Changes
Other Study ID Numbers: LEGIUS_001
First Posted: October 11, 2010    Key Record Dates
Last Update Posted: October 11, 2010
Last Verified: October 2010

Keywords provided by Katholieke Universiteit Leuven:
array CGH

Additional relevant MeSH terms:
Neurofibromatosis 1
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplastic Syndromes, Hereditary
Neurocutaneous Syndromes
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Peripheral Nervous System Diseases
Neuromuscular Diseases
Peripheral Nervous System Neoplasms
Nervous System Neoplasms