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April 13, 2020 07:50pm
By Danielle Ternyila
Genetic counselor Krista Qualmann, MS, CGC, discusses the syndromes she is identifying in patients in her clinic, as well as how they could impact brain tumor treatment.
Krista Qualmann, MS, CGC
Assessing a patient’s risk for brain tumors, and other tumor types, based on genetic testing can be a complex and complicated processone that genetic counselors can help with, says Krista Qualmann, MS, CGC.
Qualmann’s work as a genetic counselor at Memorial Hermann Mischer Neuroscience Institute and McGovern Medical School at The University of Texas Health Science Center at Houston includes trying to identify which patients have an inherited, genetic predisposition that could have caused them to be diagnosed with brain cancer. She also selects patients that could benefit from undergoing genetic testing.
Qualmann discussed the syndromes she is identifying in patients in her clinic, as well as how they could impact treatment, in an interview withTargeted Oncology.
TARGETED ONCOLOGY:Can you tell us a little bit about the syndromes you are trying to identify in your patients?
We’re trying to identify patients who have an inherited, genetic, predisposition that explains why they had their brain tumor. When I’m doing this, I’m looking for patients who have some sort of red flag because the majority of our patients with brain tumors don’t have one of these syndromes. Part of my role in our clinic is to try to identify which patients would benefit the most from genetic testing.
TARGETED ONCOLOGY:What are some of the mutations you might see?
In the neuro-oncology world, there are a lot of different types of genetic mutations that people might be talking about. The most common genetic testing that neuro-oncologists might be talking to their patients about is the molecular genetic testing of their tumor.
The genetic testing that I’m talking to patients about is genetic testing either on a blood or saliva sample to look for a gene mutation that they were born with. Very common syndromes could include things like Li-Fraumeni syndrome, von Hippel-Lindau disease, Lynch syndrome, and a couple more.
TARGETED ONCOLOGY:Is this different for a pediatric patient with brain cancer?
Yes. We test for different syndromes depending on the picture of the patient in front of us. There are a lot of different hereditary cancer syndromes, so we have to narrow it down a little bit.
I narrow things down by asking a lot of questions about the patient’s past medical history and their family history. If they have characteristic patterns of cancers in their familycertain types of tumors happening together—those can lead me to be more suspicious of specific syndromes.
TARGETED ONCOLOGY:How do the results of genetic testing influence the therapeutic approach?
For some syndromes, knowing that a patient has a genetic predisposition syndrome tells us that maybe some therapies would be better served or should actually be avoided. For example, avoiding ionizing radiation is something we can consider, however, that is very dependent on that patient’s individual treatment plan. For patients with high-grade tumors, like glioblastomas, ionizing radiation is part of their standard of care, and so they should absolutely receive that type of treatment. For patients with lower-grade tumors, or benign tumors, if we can avoid ionizing radiation in specific syndromes, it could be beneficial for them long term.
The other thing that we can gain from identifying these genetic syndromes in patients is determining whether or not they have a higher risk for other types of cancersother systemic diseases. For example, Li-Fraumeni syndrome is a rare syndrome, but patients are at very high risk, not only for brain tumors, but other types of cancers as well, such as early onset breast cancer in women, and sarcomas in both men and women. Those are the types of things they could be screened for if we identify that syndrome.
For Li-Fraumeni syndrome, almost every type of cancer that you can think of has been seen in at least a couple of patients. I think they have narrowed it down to 4 or 5 of the most common, but then they’re also at a very high risk for other cancers. For women specifically with Li-Fraumeni syndrome, they have a very high lifetime risk of any cancer because of their really high risk for breast cancer, which isn’t necessarily seen in men.
TARGETED ONCOLOGY:What would you like neuro-oncologists to take away from this?
One of the things we really want to highlight to the neuro-oncology specialists is that this risk assessment is very dynamic, it’s very complex. Genetic counselors are here to help them through that process. There are a lot of things we are looking for. It’s not just a family history of brain tumors, you need to ask a family history of all these other types of cancer. However, some of these genetic syndromes have very high rates of de novo mutations, or your patient in front of you could be the first person in their family to have that hereditary cancer syndrome. Just because they don’t have a family history, it doesn’t necessarily mean that your patient doesn’t have an underlying syndrome.
There are a lot of things to consider. We definitely recommend getting a genetic counselor involved in that process if the clinician is suspicious of a genetic syndrome. One way they can do that is by going to the National Society of Genetic Counselors website,www.NSGC.org. We have a “find a genetic counselor” tool to help identify genetic counselors in their area.