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

The recruitment status of this study is unknown because the information has not been verified recently.
Verified October 2010 by Katholieke Universiteit Leuven.
Recruitment status was  Active, not recruiting
Information provided by:
Katholieke Universiteit Leuven Identifier:
First received: October 8, 2010
Last updated: NA
Last verified: October 2010
History: No changes posted

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.

Neurofibromatosis Type 1

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Analysis of Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1 Patients

Resource links provided by NLM:

Further study details as provided by Katholieke Universiteit Leuven:

Estimated Enrollment: 50
Study Start Date: September 2007
Estimated Study Completion Date: December 2010
Primary Completion Date: September 2010 (Final data collection date for primary outcome measure)
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Genders Eligible for Study:   Both
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:


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Please refer to this study by its identifier: NCT01218139

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

No publications provided

Responsible Party: Eric Legius, KUL Identifier: NCT01218139     History of Changes
Other Study ID Numbers: LEGIUS_001
Study First Received: October 8, 2010
Last Updated: October 8, 2010
Health Authority: Belgium: Ethics Committee

Keywords provided by Katholieke Universiteit Leuven:
array CGH

Additional relevant MeSH terms:
Nerve Sheath Neoplasms
Neurofibromatosis 1
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Neoplasms by Histologic Type
Neoplasms, Nerve Tissue
Neoplastic Syndromes, Hereditary
Nervous System Diseases
Nervous System Neoplasms
Neurocutaneous Syndromes
Neurodegenerative Diseases
Neuromuscular Diseases
Peripheral Nervous System Diseases
Peripheral Nervous System Neoplasms processed this record on November 19, 2014