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

NCT01218139 | Unknown

• 1 other identifier: LEGIUS_001
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Neurofibromatosis Type 1

Keywords

neurofibroma; MPNST; array CGH; sequencing

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

population of NF1 patients, seen by prof. Eric Legius, who are having surgery to remove a tumor

You may qualify if:

• NF1 patient

Sponsors & Collaborators

• KU Leuven: lead

Study Sites (1)

KUL

Leuven, Vlaams-Brabant, 3000, Belgium

Location

MeSH Terms

Conditions

Neurofibromatosis 1; Neurofibroma; Neurofibrosarcoma

Condition Hierarchy (Ancestors)

Neurofibromatoses; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Peripheral Nervous System Neoplasms; Nervous System Neoplasms; Fibrosarcoma; Neoplasms, Fibrous Tissue; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Sarcoma

Study Officials

• Eric Legius, MD PhD

  KU Leuven

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: October 8, 2010
• First Posted: October 11, 2010
• Study Start: September 1, 2007
• Primary Completion: September 1, 2010
• Study Completion: December 1, 2010
• Last Updated: October 11, 2010

Record last verified: 2010-10

Locations

BE (1)