Microarray CGH Analysis of Circulating Tumoral Plasma DNA in NF1 Patients With MPNSTs

NCT01218152 | Unknown

• 1 other identifier: LEGIUS_002
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant disorder, caused by heterozygous mutations of the NF1 tumor suppressor gene (chr.17q11.2). One of the main clinical features is the development of benign and malignant tumors. The most common benign tumors in these patients are tumors of the peripheral nerve, named neurofibromas. Every NF1 patient has a life time risk of 8-13% to develop a malignant peripheral nerve sheath tumor (MPNST) starting from a pre-existing neurofibroma. MPNSTs lead to a bad prognosis for the patient, with an overall five-year survival of less than 25%. Complete resection is the standard treatment, but this is often difficult due to the size of the tumors and the location on important nerves, moreover the tumor is frequently metastatic at the time of diagnosis. For MPNSTs, like for other cancers, the extent and the spread of the disease at time of diagnosis is an important factor in determining treatment outcome. In this regard, the analysis of tumor derived cell-free circulating DNA in plasma of NF1 patients would open up the possibility to diagnose and monitor the development and progression of MPNSTs using a small blood sample. In cooperation with P. Schöffski (UZLeuven), we plan to collect blood samples from cancer patients to optimize the DNA extraction procedure starting from plasma samples. It is known that patients with cancer have a higher amount of free circulating DNA in plasma than individuals without cancer and therefore we want to optimize the DNA extraction procedure on plasma from patients with cancer. In the meantime, matching MPNST and plasma samples from NF1 patients will be collected and sent to us from the University of Eppendorf (Victor Mautner) to optimize the array CGH protocol for the detection of copy number changes in plasma DNA of NF1 patients with MPNSTs.

Conditions

Neurofibromatosis Type 1

Keywords

NF1; MPNST; plasma; microarray CGH

Study Arms (2)

cancer patients

patients who are seen by oncologists and who are willing to donate an extra blood sample when blood is taken routinely

NF1 patients

patients, who have neurofibromatosis type 1 and who have developped an MPNST,donating a blood sample

Eligibility Criteria

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

Study Population

cancer patients who are seen in the UZLeuven oncology clinic NF1 patients who are seen in Germany by Prof. Mautner

You may qualify if:

• according to NF1 criteria

You may not qualify if:

• NF1 patients where the tumor is already removed

Sponsors & Collaborators

• KU Leuven: lead

Study Sites (1)

KULeuven/UZLeuven

Leuven, Vlaams-Brabant, 3000, Belgium

Location

MeSH Terms

Conditions

Neurofibromatosis 1; Neurofibrosarcoma

Condition Hierarchy (Ancestors)

Neurofibromatoses; Neurofibroma; 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; Fibrosarcoma; Neoplasms, Fibrous Tissue; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Sarcoma; Peripheral Nervous System Neoplasms; Nervous System Neoplasms

Study Officials

• Eric Legius, MD PhD

  KUL/UZ

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: October 8, 2010
• First Posted: October 11, 2010
• Study Start: October 1, 2010
• Primary Completion: June 1, 2011
• Study Completion: December 1, 2011
• Last Updated: October 11, 2010

Record last verified: 2010-10

Locations

BE (1)