Caring for Adults With Neurofibromatosis Type 1 (Podcast)

Tailored surveillance and management is needed as patients move into adulthood

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Neurofibromatosis type 1 (NF1) is a genetic disorder that affects one in 3,000 people. The NF1 gene is located on chromosome 17, which is responsible for the production of neurofibromin.

“It’s a protein that prevents the cells from growing too quickly,” says Mina Lobbous, MD, MSPH, a neurologist and neuro-oncologist in Cleveland Clinic’s Rose Ella Burkhardt Brain Tumor and Neuro-Oncology Center. “So when it’s mutated or not working right, we get a malfunctioning gene that leads to the development of several symptoms throughout the skin, brain, nerves, eyes and other organs.”

NF1 is typically diagnosed in childhood, so patients require long-term management of the condition as they age into adulthood. In this episode of Cleveland Clinic’s Neuro Pathways podcast, Dr. Lobbous examines care of adults with NF1. He discusses:

  • Clinical signs of NF1, including café-au-lait spots, neurofibromas, tibial dysplasia and Lisch nodules
  • Problems associated with NF1, such as scoliosis, learning difficulties and optic nerve gliomas
  • Transition of care from pediatric to adult clinics
  • New treatments for the condition, including the FDA-approved MEK inhibitor selumetinib
  • Research breakthroughs for understanding the disease and predicting response to therapy

Click the podcast player above to listen to the 30-minute episode now, or read on for a short edited excerpt. Check out more Neuro Pathways episodes at or wherever you get your podcasts.

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Excerpt from the podcast

Podcast host Glen Stevens, DO, PhD: Are there any other unique medical issues we need to follow with these patients?

Dr. Lobbous: One such issue is projecting how the disease will impact the patient’s life over the years. The disease can be quite variable in how it presents, even within the same family. A number of questions arise as a result: How do we know which patients need more frequent screening? What is the best screening tool, and when is the time to intervene?

We know these patients have an increased risk of cancer, so we counsel patients about the symptoms to look for. We get imaging, including PET scans, to allow early identification of any signs of malignant transformation. And now, thanks to research into phenotype/genotype correlation, if we know a specific mutation can predict more aggressive disease, then we tailor the screening and the surveillance differently for those patients.

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Dr. Stevens: That’s really the crux of it, isn’t it — trying to determine what an individual’s penetrance and manifestation is going to be? Are we at that point?

Dr. Lobbous: We know that certain mutations can cause patients to have more spinal cord tumors, like spinal neurofibromatosis. Still, data sharing among academic institutions must undergo a whole regulatory process, and that takes time. But one of the ongoing research efforts through the international collaboration REiNS — Response Evaluation in Neurofibromatosis and Schwannomatosis —is designed to better understand and predict these sorts of questions around the phenotype/genotype correlation.

Right now, we operate based on a reactive model, meaning that we don’t intervene medically or surgically unless a problem starts to happen. That can be somewhat frustrating. But I believe one day we will switch to a more proactive model where we can intervene at an earlier time point to prevent complications, or event prevent tumors from happening or reverse the course of the disease. For now, the more we know and learn, the more we can empower our patients.