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.

In early May, the UAB NF Clinic resumed in-person visits as the COVID-19 vaccine became widely available and cases decreased significantly in most parts of the U.S. However, due to the later resurgence of COVID-19 cases related to the Delta variant, UAB clinics were again encouraged to utilize telemedicine as much as possible to reduce viral transmission and protect patients. Before the pandemic, our NF Clinic had plans to integrate telemedicine into patient care. The explosion of the pandemic in early 2020 served to accelerate our adoption of telemedicine as a practical tool that allowed us to continue serving patients. As telemedicine continues to play an integral role in patient care in the UAB NF Clinic, I’d like to discuss the limitations and benefits of the technology as well as the potential role of telemedicine in the future of patient care.