While most people associate tumors with cancer, they can also be caused by genetic factors.
Learn more about the most common neurocutaneous disorders, what causes them and how they can be treated from a UVA neurosurgeon who specializes in these conditions.
Selected Podcast
Neurocutaneous Disorders: Tumors Caused by Genetic Factors
Featured Speaker:
Organization: UVA Health System Neurosciences
Dr. Ashok Asthagiri
Dr. Ashok Asthagiri is a neurosurgeon at UVA Health System, where he leads a multidisciplinary team in treating neurocutaneous disorders.Organization: UVA Health System Neurosciences
Transcription:
Neurocutaneous Disorders: Tumors Caused by Genetic Factors
Melanie Cole (Host): While most people associate tumors with cancers, they can also be caused by genetic factors. Today we're talking about neurocutaneous disorders and their treatment options.My guest is Dr. Ashok Asthagiri. He's a neurosurgeon at UVA Health System, where he leads a multi-disciplinary team in treating neurocutaneous disorders. Welcome to the show. So tell the listeners or people who aren't familiar, what are neurocutaneous disorders?
Ashok Asthagiri (Guest): Great. Neurocutaneous disorders are a constellation of different disorders that have been grouped together because of certain components that are very similar. The folks with any type of neurocutaneous disorder will have neurologic problems—that's where the neuro part comes—and oftentimes also have cutaneous signs or skin alterations that can be readily apparent on physical examination. That's how these groups of disorders have been clustered together.In addition to that, this group of disorders also carries what you had mentioned earlier, a genetic component, that we understand that many of them are actually caused by known mutations in DNA and can be inherited from parent to child. So we've lumped all these together because they sort of fall under the same category of common symptoms that may cluster together, and that's why they've been historically grouped together.
Melanie: Do we know what causes them? How common are they, really?
Dr. Asthagiri: Well, the reason that we're still talking about neurocutaneous disorders and that it's not widespread knowledge what they are is because of their relative rarity. If we cluster them all together as a group, they occur at about one in every 1,000 persons living in the United States. When we think about that, that's a pretty small number. In fact, they are actually covered under the terminology of rare disease by the Office of Rare Diseases in the National Institute of Health. Having said that, that's also what has propelled them to the forefront of research and investigation and actually has really gone into why we are able to definitively say what causes these types of syndromes.The mainstay of what causes them are genetic mutations. So for example, there are several of them that are quite common. There are the neurofibromatosis, Von Hippel-Lindau Syndrome, and tuberous sclerosis. And we know that genes that are involved that actually cause these, and we can actually do genetic testing to identify that there are these genetic mutations that are present.
Melanie: Now, if somebody does have these genetic mutations, are there certain treatments? Is this something that is a chronic situation in their lives? Tell us about treatments.
Dr. Asthagiri: Yeah. Even though it is oftentimes passed from parent to child, it is not just a pediatric disorder that folks grow out of—as you mentioned, chronic condition, a lifelong condition. For many of these syndromes, the adult aspect is equally, if not more, important to their chronic care as their pediatric years are. It's really a lifelong process of continual surveillance and treatment that's really needed in order to manage patients with these types of disorders effectively.As research and investigation of these disorders have developed, the treatments have been really ratified over the last 20 years. Let me give you a few examples of how things have changed. And there, I think it epitomizes what medicine is evolving too in many conditions. Thirty, 40 years ago, what happened with all of these types of patients is you wait until you get a problem, you see the doctor, and we might identify a tumor in the nervous system that's causing a problem, and then it gets taken out. For some conditions now, we have actually developed certain types of alternatives: surgical therapy and also the use of radiosurgery, which is focused radiation, to manage some of the tumors. In other situations, it also progressed to very efficacious types of medical therapies that can absolutely control some of the symptoms that developed, such as hearing loss and some of the condition, and also, tumors that are growing, they can cause seizures. Some very effective medications exists or that and are under clinical investigation, clinical trials. So epitomizes the transition from a reactive type of treatment—when you have a problem, we take care of it.In general, medicine has evolved such that we're not trying to react to problems that develop, but rather, be proactive, be able to figure out problems, where they come on, number one. And number two, try to treat them in a more holistic approach and try to treat things in a less morbid, even less surgical approach. That's where things are moving to, and that's what we're trying to evolve to and create new treatments for them.
Melanie: You're focusing more on preventing or maximizing the person's capabilities at home and in the community, correct?
Dr. Asthagiri: Absolutely, because folks with neurocutaneous disorders oftentimes develop multiple nervous system tumors. If you have three brain tumors, two spinal tumors, and one or two tumors on the peripheral nerve, there's no way to get rid of all of the tumors. We don't operate on all of the tumors just because they're there. Instead, we follow them very closely. And if they develop symptoms, naturally, we would have to treat, but part of the issue is trying to figure out a way to optimize their ability to work and function in the community, and then also try to delay or prevent symptom evolution. That's where things are headed. That's where we would like to be in 10, 15, 20 years, and we're getting there. I think we're making our steps into those types of advances.
Melanie: Doctor, you lead a multi-disciplinary team in treating neurocutaneous disorders. What does that mean, and why should patients come to UVA for their care?
Dr. Asthagiri: Well, one of the reasons that I actually came back to the University of Virginia is because of this commitment to the multi-disciplinary aspect of these patients. Patients with neurocutaneous disorders not only have problems with tumors in their nervous system and from skin changes. They also have, at times, cardiac abnormality and brain tumors that can cause high blood pressure. They also can develop renal cell cancer and many other types of organs that can be involved. So for each of the subtypes of neurocutaneous disorders, we've developed a multi-disciplinary first point of contact team that has agreed to help manage patients with these specific types and conditions. For a long time, folks with neurocutaneous disorders would have to go to a center, one center, or get an appointment in to go see a neurosurgeon and then three weeks later, have a disjointed appointment with another doctor who may not know about the neurosurgeon, that wasn't very coordinated.
Melanie: Now, we don't have much time, so what you're saying here, doctor, is that you can provide all of those different aspects in one place, yes?
Dr. Asthagiri: That's right, yeah. That's what the University of Virginia has to offer for folks with neurocutaneous disorders. That's right.
Melanie: Well, thank you so very much. You're listening to UVA Health System Radio. For more information, you can go to uvahealth.com. You've been listening to our discussion on neurocutaneous disorders and the multi-disciplinary approach at University of Virginia Health System. This is Melanie Cole. Thanks so much for listening.
Neurocutaneous Disorders: Tumors Caused by Genetic Factors
Melanie Cole (Host): While most people associate tumors with cancers, they can also be caused by genetic factors. Today we're talking about neurocutaneous disorders and their treatment options.My guest is Dr. Ashok Asthagiri. He's a neurosurgeon at UVA Health System, where he leads a multi-disciplinary team in treating neurocutaneous disorders. Welcome to the show. So tell the listeners or people who aren't familiar, what are neurocutaneous disorders?
Ashok Asthagiri (Guest): Great. Neurocutaneous disorders are a constellation of different disorders that have been grouped together because of certain components that are very similar. The folks with any type of neurocutaneous disorder will have neurologic problems—that's where the neuro part comes—and oftentimes also have cutaneous signs or skin alterations that can be readily apparent on physical examination. That's how these groups of disorders have been clustered together.In addition to that, this group of disorders also carries what you had mentioned earlier, a genetic component, that we understand that many of them are actually caused by known mutations in DNA and can be inherited from parent to child. So we've lumped all these together because they sort of fall under the same category of common symptoms that may cluster together, and that's why they've been historically grouped together.
Melanie: Do we know what causes them? How common are they, really?
Dr. Asthagiri: Well, the reason that we're still talking about neurocutaneous disorders and that it's not widespread knowledge what they are is because of their relative rarity. If we cluster them all together as a group, they occur at about one in every 1,000 persons living in the United States. When we think about that, that's a pretty small number. In fact, they are actually covered under the terminology of rare disease by the Office of Rare Diseases in the National Institute of Health. Having said that, that's also what has propelled them to the forefront of research and investigation and actually has really gone into why we are able to definitively say what causes these types of syndromes.The mainstay of what causes them are genetic mutations. So for example, there are several of them that are quite common. There are the neurofibromatosis, Von Hippel-Lindau Syndrome, and tuberous sclerosis. And we know that genes that are involved that actually cause these, and we can actually do genetic testing to identify that there are these genetic mutations that are present.
Melanie: Now, if somebody does have these genetic mutations, are there certain treatments? Is this something that is a chronic situation in their lives? Tell us about treatments.
Dr. Asthagiri: Yeah. Even though it is oftentimes passed from parent to child, it is not just a pediatric disorder that folks grow out of—as you mentioned, chronic condition, a lifelong condition. For many of these syndromes, the adult aspect is equally, if not more, important to their chronic care as their pediatric years are. It's really a lifelong process of continual surveillance and treatment that's really needed in order to manage patients with these types of disorders effectively.As research and investigation of these disorders have developed, the treatments have been really ratified over the last 20 years. Let me give you a few examples of how things have changed. And there, I think it epitomizes what medicine is evolving too in many conditions. Thirty, 40 years ago, what happened with all of these types of patients is you wait until you get a problem, you see the doctor, and we might identify a tumor in the nervous system that's causing a problem, and then it gets taken out. For some conditions now, we have actually developed certain types of alternatives: surgical therapy and also the use of radiosurgery, which is focused radiation, to manage some of the tumors. In other situations, it also progressed to very efficacious types of medical therapies that can absolutely control some of the symptoms that developed, such as hearing loss and some of the condition, and also, tumors that are growing, they can cause seizures. Some very effective medications exists or that and are under clinical investigation, clinical trials. So epitomizes the transition from a reactive type of treatment—when you have a problem, we take care of it.In general, medicine has evolved such that we're not trying to react to problems that develop, but rather, be proactive, be able to figure out problems, where they come on, number one. And number two, try to treat them in a more holistic approach and try to treat things in a less morbid, even less surgical approach. That's where things are moving to, and that's what we're trying to evolve to and create new treatments for them.
Melanie: You're focusing more on preventing or maximizing the person's capabilities at home and in the community, correct?
Dr. Asthagiri: Absolutely, because folks with neurocutaneous disorders oftentimes develop multiple nervous system tumors. If you have three brain tumors, two spinal tumors, and one or two tumors on the peripheral nerve, there's no way to get rid of all of the tumors. We don't operate on all of the tumors just because they're there. Instead, we follow them very closely. And if they develop symptoms, naturally, we would have to treat, but part of the issue is trying to figure out a way to optimize their ability to work and function in the community, and then also try to delay or prevent symptom evolution. That's where things are headed. That's where we would like to be in 10, 15, 20 years, and we're getting there. I think we're making our steps into those types of advances.
Melanie: Doctor, you lead a multi-disciplinary team in treating neurocutaneous disorders. What does that mean, and why should patients come to UVA for their care?
Dr. Asthagiri: Well, one of the reasons that I actually came back to the University of Virginia is because of this commitment to the multi-disciplinary aspect of these patients. Patients with neurocutaneous disorders not only have problems with tumors in their nervous system and from skin changes. They also have, at times, cardiac abnormality and brain tumors that can cause high blood pressure. They also can develop renal cell cancer and many other types of organs that can be involved. So for each of the subtypes of neurocutaneous disorders, we've developed a multi-disciplinary first point of contact team that has agreed to help manage patients with these specific types and conditions. For a long time, folks with neurocutaneous disorders would have to go to a center, one center, or get an appointment in to go see a neurosurgeon and then three weeks later, have a disjointed appointment with another doctor who may not know about the neurosurgeon, that wasn't very coordinated.
Melanie: Now, we don't have much time, so what you're saying here, doctor, is that you can provide all of those different aspects in one place, yes?
Dr. Asthagiri: That's right, yeah. That's what the University of Virginia has to offer for folks with neurocutaneous disorders. That's right.
Melanie: Well, thank you so very much. You're listening to UVA Health System Radio. For more information, you can go to uvahealth.com. You've been listening to our discussion on neurocutaneous disorders and the multi-disciplinary approach at University of Virginia Health System. This is Melanie Cole. Thanks so much for listening.