Diagnostic and Management Approach for Neurofibromatosis

Diagnostic Approach

The American College of Medical Genetics and Genomics recommends evaluation by and care coordination with a specialized NF clinic for optimal diagnosis and management of neurofibromatosis, as this multidisciplinary approach significantly reduces morbidity and mortality 1

The American College of Medical Genetics and Genomics recommends annual general medical evaluation, including assessment for signs/symptoms of malignant peripheral nerve sheath tumor, evaluation for pheochromocytoma, screening for neuropathy, assessment for depression, evaluation of chronic pain and pruritus, blood pressure measurement, and clinical evaluation for scoliosis with Adam's forward bend test 1, 3
The National Comprehensive Cancer Network recommends annual mammogram starting at age 30 and consideration of breast MRI with contrast between ages 30-50 for women with NF1 1
The American College of Medical Genetics and Genomics recommends consideration of baseline MRI of known or suspected non-superficial plexiform neurofibromas 1, 3
The American Academy of Pediatrics recommends referral to a high-risk obstetrician for pregnant women with NF1 and education about the 50% offspring recurrence risk 1, 3
Preimplantation genetic diagnosis and prenatal diagnosis are available options for patients with NF1 1, 3

The American College of Medical Genetics and Genomics reports that the risk of NF1-associated MPNST to ages 30, 50, and 85 years is 8.5%, 12.3%, and 15.8% respectively 4, 5
High-grade MPNSTs are usually fatal, contributing significantly to NF1 mortality 4, 5
Life expectancy in NF1 is reduced by 8-15 years compared to the general population, primarily due to malignant neoplasms and cardiovascular causes 4, 5