DoD Award NF230020 Identification of Metabolic Markers and Statistical Prediction of MPNST for Rapid Diagnosis and Assessment of Surgical Margins

Primary Objectives:

Aim 1. Determine the metabolite and lipid profiles of MPNST, neurofibroma, and nerve tissues

Aim 2. Validate the handheld mass spectrometry device (MSPen-Orbitrap system) for MPNST and neurofibroma diagnosis and for intraoperative surgical margin evaluation

Inclusion criteria

• This study will enroll approximately 60 participants diagnosed with either MPNST or neurofibroma who are undergoing surgical resection of an MPNST or neurofibroma as part of their standard of care.
• Age ≥ 1 years. Individuals younger than 18 years old will be included. For patients of age < 18 years, both parents' signatures will be requested.
• Patients must have measurable disease, defined as at least one lesion that can be accurately measured in at least one dimension as ≥10 mm (≥1 cm) with CT scan, MRI, or calipers by clinical exam.
• Recurrent or primary disease.
• Patients who are > 18 years should have the ability to understand and the willingness to sign a written informed consent document.
• English and non-English speaking patients.

Exclusion criteria

• Adult patients with cognitive impairment requiring a legally authorized representative for consent.
• Patients under age 1 and neonates.
• Patients who are pregnant and undergoing surgery for MPNST are not eligible.