Whole Body Magnetic Resonance Imaging With Diffusion Weighted Imaging : Potential Role in Neurofibromatosis (NEFIMAR)

Whole body MRI will be performed in patients with neurofibromatosis Type 1

PURPOSE 1:

To determine the total tumor load (neurofibroma) and to diagnose plexiform neurofibromas or malignant peripheral nerve sheath tumors. All patients will be scanned two years after the baseline whole body MRI to investigate to investigate the changes of total tumor load.

PURPOSE 2: added value of diffusion weighted imaging in diagnosis of high-risk neurofibromas

PURPOSE 3 : to determine the apparent diffusion coefficient of the malignant nerve sheath tumors and neurofibroma.

PURPOSE 4 : correlation between histopathology of the surgically resected neurofibroma/malignant nerve sheath tumors and MRI findings

Study Overview

• Status: Unknown
• Conditions: Magnetic Resonance Imaging; Neurofibromatosis 1; Whole Body Imaging; Diffusion Magnetic Resonance Imaging; Peripheral Nerve Sheath Tumors, Malignant
• Intervention / Treatment: Other: Additional imaging or surgery

• Study Type: Observational
• Enrollment (Anticipated): 30

Contacts and Locations

• Study Contact: Name: Steven Pans, MD; Phone Number: 3216340505s; Email: steven.pans@uzleuven.be

Study Locations

• Belgium
  • Leuven, Belgium
    • Recruiting
    • University Hospitals Leuven
    • Contact: Steven Pans, MD; Phone Number: 3216340505; Email: steven.pans@uzleuven.be

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years to 50 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

All patients with a clinically proven neurofibromatosis type 1 can be included.

Description

Inclusion Criteria:

• Patients with neurofibromatosis type 1, between 6 and 50 years old

Exclusion Criteria:

• Patients who are not allowed to be scanned on MRI (contra-indications: pacemaker ed.)

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Neurofibromatosis 1; All patients diagnosed with neurofibromatosis type 1. GROUP 1:ADDITIONAL IMAGING OR SURGERY There will be patients with high-risk neurofibromas (potential malignant). These patients will underwent additional examinations or surgery (outside this study). Follow-up MRI within 2 years (study MRI ) GROUP 2: No suspicious lesions at MRI. Follow-up within 2 years(Study MRI).	Other: Additional imaging or surgery; No specific intervention is necessary. If a suspicious lesion is diagnosed on MRI, further investigation will be planned (PET-CT or surgery - biopsy)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Estimation of total tumor load and diagnosis of high-risk neurofibromas	Estimation of the total tumor load of neurofibromas with whole body MRI (head to knee). Diagnosis of high risk neurofibroma in the chest, abdomen, pelvis, and extremities with T2-weighted sequence and diffusion weighted sequence.	1 month

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To diagnose high-risk neurofibroma	Some patients with neurofibromatosis have lesions, pre-malignant or malignant neurofibromas. Additional imaging (PET-CT), a biopsy or surgical treatment is necessary in combination with histopathology of the lesion.	2 months

Collaborators and Investigators

• Sponsor: Universitaire Ziekenhuizen KU Leuven
• Investigators: Principal Investigator: Steven Pans, MD, Universitaire Ziekenhuizen KU Leuven

Publications and helpful links

General Publications

• Cai W, Kassarjian A, Bredella MA, Harris GJ, Yoshida H, Mautner VF, Wenzel R, Plotkin SR. Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images. Radiology. 2009 Mar;250(3):665-73. doi: 10.1148/radiol.2503080700.
• Tucker T, Friedman JM, Friedrich RE, Wenzel R, Funsterer C, Mautner VF. Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas. J Med Genet. 2009 Feb;46(2):81-5. doi: 10.1136/jmg.2008.061051. Epub 2008 Oct 17.
• Van Meerbeeck SF, Verstraete KL, Janssens S, Mortier G. Whole body MR imaging in neurofibromatosis type 1. Eur J Radiol. 2009 Feb;69(2):236-42. doi: 10.1016/j.ejrad.2008.10.024. Epub 2008 Dec 16.

Study record dates

Study Major Dates

• Study Start: December 1, 2010
• Primary Completion (Anticipated): January 1, 2013
• Study Completion (Anticipated): January 1, 2014

Study Registration Dates

• First Submitted: January 23, 2013
• First Submitted That Met QC Criteria: January 23, 2013
• First Posted (Estimate): January 28, 2013

Study Record Updates

• Last Update Posted (Estimate): January 28, 2013
• Last Update Submitted That Met QC Criteria: January 23, 2013
• Last Verified: January 1, 2013

More Information

Terms related to this study

• Keywords: Magnetic Resonance Imaging; Neurofibromatosis 1; Diffusion Magnetic Resonance Imaging; Whole Body Imaging; Peripheral Nerve Sheath Tumors, Malignant
• Additional Relevant MeSH Terms: Nervous System Diseases; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Neoplasms, Nerve Tissue; Peripheral Nervous System Diseases; Nervous System Neoplasms; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Neoplasms, Connective Tissue; Sarcoma; Neurocutaneous Syndromes; Peripheral Nervous System Neoplasms; Neoplasms, Fibrous Tissue; Fibrosarcoma; Neurofibromatoses; Neurofibromatosis 1; Neurofibroma; Nerve Sheath Neoplasms; Neurofibrosarcoma
• Other Study ID Numbers: NEFIMAR; S52684 (Other Identifier: Clinicla trial Center UZ Leuven)