This month’s blog post launches a series highlighting the three main categories that comprise our UAB NF Program – clinical care, research, and education. I’ll provide an overview of our program in these areas, while upcoming posts will give more in-depth information about specific aspects of the program and feature insights from our clinicians and scientists.

Before beginning this month’s blog topic, I want to mention a couple of developments related to our UAB NF Program.  First, one of the adult neuro-oncologists who worked with patients in our NF Clinic, Mina Lobbous, MD, recently left UAB for a position at another medical center.  I know that many of our patients benefitted greatly from Dr. Lobbous’s expertise, and we wish him well in his new role.  However, adult NF patients in our clinic still have the same access to specialists in the UAB neuro-oncology group, which assists NF patients with the management and treatment of NF-related neuro-oncological issues, including brain and spinal tumors and complex plexiform neurofibromas. In another development, we are planning a virtual UAB NF Symposium Family Day, scheduled to occur on Saturday, April 30. As we have for the past two years, we are holding this important event virtually this year to limit the spread of COVID-19. This free, half-day event, co-sponsored by the UAB Department of Genetics and the Children’s Tumor Foundation (CTF), gives patients and families the opportunity to hear a series of presentations on a range of NF-related topics from clinical experts. The agenda will be posted shortly on our UAB NF Program website (link) and Facebook page (link).

Previously, I have discussed the fact that NF is a highly variable condition that can express differently among affected individuals. For example, two people within the same family can have very different symptoms of the condition. In this post, I’ll briefly review the genetics and inheritance patterns of all forms of NF and discuss the primary reasons for variability in expression among people with NF.

The focus of this month’s blog post is a discussion of malignant peripheral nerve sheath tumors (MPNSTs), which represent one of the few potentially life-threatening complications of neurofibromatosis type 1. Because these tumors, which occur in about 10% of people with NF1, are not responsive to any known mode of treatment when they have spread through the body, early diagnosis and surgical treatment are currently important for a better outcome. Clinical trials are underway to identify more effective approaches to early detection and treatment.