A group of experts has concluded years of work to develop clinical care guidelines for adults with NF1. The results have been published by Genetics in Medicine, and are officially sponsored by the American College of Medical Genetics.
“Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)”
Douglas R. Stewart, MD1, Bruce R. Korf, MD, Ph.D2, Katherine L. Nathanson, MD3,4,
David A. Stevenson, MD5 and Kaleb Yohay, MD6
Published April 26, 2018 Read the entire document here.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a heterozygous loss-of function variant in the tumor suppressor gene NF1; it affects ~ 1/1,900–1/3,500 people worldwide.
The disorder is associated with an 8–15-year reduction in average life expectancy in both men and women, primarily due to malignant neoplasms and cardiovascular causes.
A work group of experts sought to determine the prevalence, morbidity and mortality, and available treatments of common and emerging NF1-related clinical problems in adults.
Work-group members identified peer-reviewed publications from PubMed. Publications derived from populations and multiinstitution cohorts were prioritized. Recommendations for management arose by consensus from this literature and the collective expertise of the authors.
Malignant peripheral nerve sheath tumor (MPNST), breast cancer, cutaneous neurofibromas, and significant psychiatric and neurologic diagnoses are common problems in patients with NF1.
Patient education and sensitization to worrisome signs and symptoms such as progressive severe pain (MPNST), changes in tumor volume (MPNST), new, unexplained neurologic symptoms (MPNST, brain tumors), and diaphoresis/palpitations (pheochromocytoma) are important. Although many issues in adults with NF1 can be managed by an internist or family physician, we strongly encourage evaluation by, and care coordination with, a specialized NF1 clinic.
Key Words: breast cancer; cutaneous neurofibromas; malignant peripheral nerve sheath tumor; neurofibromatosis type 1; osteopenia/osteoporosis