MedTrace Logo

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

NCT01218139 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2010-10-11

No results posted yet for this study

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

Sponsors & Collaborators

  • KU Leuven

    lead OTHER

Principal Investigators

  • Eric Legius, MD PhD · KU Leuven

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2007-09-30
Primary Completion
2010-09-30
Completion
2010-12-31

Countries

  • Belgium

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01218139 on ClinicalTrials.gov