Transcription:
Neurofibromatosis (NF)

 

Melanie Cole:  Welcome to Back To Health, your source for the latest in health, wellness, and medical care. Keeping you informed so you can make informed healthcare choices for yourself and your whole family. Back To Health features conversations about trending health topics and medical breakthroughs from our team of world-renowned physicians at Weill Cornell Medicine.

I'm Melanie Cole. And today, we're discussing neurofibromatosis. Joining me is Dr. Evan Noch. He's an assistant professor in the Department of Neurology at Weill Cornell Medicine. Dr. Noch, it's a pleasure to have you join us today. Such an interesting topic. Tell us a little bit about neurofibromatosis and what it is. Are there different types? Give us a little lesson here.

Dr. Evan Noch: Thanks so much for having me, Melanie. So neurofibromatosis is a group of genetic disorders that causes tumors to form on nervous system tissues. Now, it can be broken down into three types, neurofibromatosis or NF1, NF2, and schwannomatosis.

So NF1 is a genetic form of neurofibromatosis that typically develops in childhood and it's associated with several hallmark features. And these are the types of features that parents and physicians often detect in the children. The first are these café au lait spots. These are flat light brown spots on the skin. Now, many normal people have these skin spots. But when there are more than six present, that's when it's concerning for NF1.

People can also have freckles in the armpit region. And the other notable skin finding is tiny pea-sized bumps on the skin. These are known as neurofibromas. Now, while these often grow on the skin, they can also grow along nerve fibers inside the body. They're not visible on the outside. Some patients also have tiny bumps on the colored part of the eye, the Iris. Now, patients can also have bone deformities that can cause scoliosis or even bowed legs and other neurocognitive problems, including learning disabilities as well as a large head size and short stature. One of the serious issues that can arise in some patients is that they can have tumors on their optic nerve called optic nerve gliomas that can sometimes impair vision.

Now, the other disorder, NF2, is much less common than NF1. And typically, it is associated with benign brain tumors or brain tumors that are not malignant and also tumors inside both ears, which are called acoustic neuromas or vestibular schwannomas. These patients tend to become symptomatic in their late teen and early adult years.

And a third form of neurofibromatosis is called schwannomatosis, which is the least common and generally occurs in people after the age of 20. Patients tend to present with tumors that grow along peripheral nerves, so nerves that are outside the brain and nerves that include the auditory or hearing nerve as well.

Melanie Cole: Wow. That was an excellent explanation, Dr. Noch. Thank you so much. So tell us a little bit about who's at risk. Is this genetic? And then if no one in the family has it, but a child does, why is that? Tell us a little bit about the hereditary factor in this, and also who else might be at risk.

Dr. Evan Noch: Yeah, that's a great question. So both NF1 and NF2 are genetic disorders that are inherited in about half of patients in a fashion where if one parent has it and passes that gene onto their child, then that child will also develop the disease. So if you have one copy of the disease, that's enough to develop the disease itself. The other half develops the disease spontaneously or de novo, meaning they develop a new mutation during development.

Now, schwannomatosis on the other hand, most commonly develops spontaneously, but 20% of cases are inherited. And 90% of children who are diagnosed with NF1 are diagnosed pretty early by age 7.

Melanie Cole: So if someone doesn't have features of NF in childhood, can they develop it later in life and be diagnosed in adolescence or even into adulthood? How does that work, doc?

Dr. Evan Noch: Yeah, so some forms of NF, for example, like NF2 and schwannomatosis, most often develop later in adolescence or even in early adulthood. So patients who are at risk of developing NF2, for example, get screened with MRIs and hearing tests throughout adolescence to try to pick up tumors that might arise. And the same thing for patients who have family members with schwannomatosis, these patients can undergo screening early in life to help detect forms that might arise later on. And other times, if there is no family history, some patients will develop some of the features of these diseases.

Most often the types of entities that cause symptoms, for example, tumors in the central nervous system, like those tumors on the optic nerve pathway or the tumors on the auditory nerves. And during workup, sometimes these patients are actually found to have an underlying genetic mutation in their whole body that predispose to those certain tumor entities.

Melanie Cole: So Dr. Noch, if an adult is diagnosed with this, do you recommend that they do some kind of prenatal genetic testing to see if it runs in the family? Are their symptoms going to be the same if they have a child with NF or one of the types? Speak a little bit about how you work with families and how do you know?

Dr. Evan Noch: Yeah. So if there is a parent who has disease-causing mutation in their germline or that's a say in all the cells of their body, it's a good idea for them to conduct a genetic testing on their child so that they can determine whether or not that child carries the same risk. And the reason for that is that they can conduct age-related screening for some of the tumor entities that occur down the line and try to detect them early so that they can be treated before catastrophic events might happen like vision loss or potentially hearing loss.

But the good thing also is that a parent's neurofibromatosis and a child's is not always the same. Now that's because sometimes the genes can cause involvement in different body tissues or so-called segmental involvement. So that only certain organs or body systems are involved. And there's also another phenomenon called mosaicism. And what that means is that only certain cells within a certain tissue are affected so that it may not be tumors, for example, that develop everywhere or in one part of the body, but only in certain cell types, meaning that those tumors can be treated individually and that the other cells are relatively normal.

So the key takeaway is that even though a parent might have a certain form of the disease, it doesn't mean that the child will have the same severity of that disease. But that's where the screening comes into play.

Melanie Cole: So interesting. So tell us a little bit about treatments that you might use. And I understand there are different types and they're going to manifest and present in patients in different ways, in children versus adults, but speak about what's going on in your field and what treatment options are available for families listening.

Dr. Evan Noch: Yeah. So treatments for NF typically consists of a multidisciplinary approach and that's because these disorders involve so many body systems, for example, the brain, the spine, the GI tract, the eyes and the auditory system, for example. So most often, the treatments that are meant to take care of some of the symptoms are really targeted at some of those more severe manifestations like the tumors that develop, like the bony problems.

So for the tumors that develop, the standard options would include surgery if there is a big bulky tumor that's causing symptoms and sometimes radiation can be really effective at handling some of these tumors and avoiding more complex surgeries depending on the location. But for some of the other manifestations like the bony abnormalities, that's where some of the screenings come into play and making sure that bone density is sufficient, especially in developing children.

Some patients can also develop high blood pressure and so that can be managed appropriately. And others can even have problems with their peripheral nerves, because if tumors grow on some of the peripheral nerves, it can cause symptoms such as numbness, tingling or weakness. And these can be managed with some medications that are used for these symptoms.

Now, the other thing to keep in mind is that these patients can also have problems with their hypothalamic and pituitary axis, and those are the organs in the brain that secrete hormones and can regulate aspects of life such as puberty. And so it's really important to have endocrinology followup for these patients so that they can detect these abnormalities and treat them appropriately so that their growth milestones and developmental milestones are met appropriately.

Melanie Cole: I love that you're talking and telling us about this multidisciplinary approach. Just for a minute, before we wrap up, expand on how this really involves the medical home, whether it's the child's pediatrician or an adult's internist, and how you all work together to help these families with these various manifestations.

Dr. Evan Noch: Well, in specialized centers for neurofibromatosis, there would be this team who would meet to talk about these patients in a multidisciplinary fashion, whether that was in a tumor board setting or in a multidisciplinary team or an MDT to talk about these patient's issues and to ensure that they're getting adequate followup in each of these arenas.

There's also issues in kids who develop brain tumors, psychosocial issues with fertility preservation that needs to be met as these children go along in life to ensure that they have a high quality life, just like all of their other peers and that all of their symptoms are dealt with, all of their psychosocial needs are managed and that they can live a happy life just like all of their other peers even though they deal with this genetic syndrome that can cause a whole variety of problems down the line.

Melanie Cole: It's very complex, but make it easy to understand. If you'd like to please wrap it up for us, what would you like us to know about neurofibromatosis and why people should come to Weill Cornell Medicine for their care?

Dr. Evan Noch: Well, I think neurofibromatosis, though it has a whole panoply of symptoms and issues that can develop, is a very manageable disease these days with adequate monitoring and treatments that are really improving. For example, molecular therapy that's helping to target an individual's gene mutations so that they can take care of some of these lesions without having to undergo complex surgery or even radiation.

And so I think the field is really ripe for discovery in the laboratories and translating these discoveries to our patients to help them deal with these diseases and make it more like a chronic illness, much like diabetes and high blood pressure is.

So here at Weill Cornell, we have many physicians, multidisciplinary approaches to deal with these patient's tumors and with their symptoms. And we're happy to take care of these patients in a holistic approach so that, like I said, they can live happy lives going forward.

Melanie Cole: Thank you so much, Dr. Noch, for joining us. That was fascinating. Thank you again.

And Weill Cornell Medicine continues to see our patients in person as well as through video visits. And you can be confident of the safety of your appointments at Weill Cornell Medicine.

That concludes today's episode of Back To Health. We'd like to invite our audience to download subscribe, rate, and review Back To Health on Apple Podcasts, Spotify and Google Podcast. For more health tips, please visit weillcornell.org and search podcasts. There's so many interesting episodes in the library. And parents, don't forget to check out our Kids Health Cast. I'm Melanie Cole.  

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