Dr. Breelyn Wilky is an associate professor of medicine in the Department of Medical Oncology at the University of Colorado, Anschutz Medical Campus. She also serves as the director of Sarcoma Medical Oncology, deputy associate director for Clinical Research, and the Cheryl Bennett and McNeilly Family Endowed Chair in Sarcoma Research at the University of Colorado Cancer Center, UCHealth.

Dr. Breelyn Wilky 

Dr. Breelyn Wilky urged newly diagnosed GIST patients to seek support from peers and advocacy groups, and to consult experts, even if care stays local.

Second Opinions Key for Those Newly Diagnosed With GIST

Dr. Breelyn Wilky of the University of Colorado said patients newly diagnosed with gastrointestinal stromal tumor (GIST) should know they’re not alone.

She encouraged connecting with others through social media or patient groups, like the Life Raft Group, which offers trusted information and support.

Dr. Wilky also emphasized the value of seeing a GIST expert, even if most care happens locally. Second opinions from sarcoma centers can be reassuring, and travel grants are available through advocacy groups.

Wilky also serves as the director of Sarcoma Medical Oncology, deputy associate director for Clinical Research, and the Cheryl Bennett and McNeilly Family Endowed Chair in Sarcoma Research at the University of Colorado Cancer Center, UCHealth.

What advice would you give to someone newly diagnosed with just who may feel overwhelmed by the rarity of their condition?

You are not alone. Rare tumors may be uncommon overall. but they’re not rare to the people living with them, or to the doctors who treat them. I think the key is recognizing that there are other patients like you out there. Especially when you're newly diagnosed, connecting with other patients can be incredibly valuable.

There are multiple Facebook groups and other social media platforms where you can find patients from all over the world. Some of the advice you'll get there is helpful, some of it less so, so you'll need to figure out what works best for you.

The patient advocacy group Life Raft Group is an incredibly helpful resource. They've been supporting patients for 25 years; they help people live with GIST, learn about treatments, and connect with the right doctors and specialists. I always recommend my new patients check out their website and make connections there.

Another key point is to get yourself an expert. Think of it like this: if you needed heart surgery, you’d want a surgeon who’s done a lot of heart surgeries, not someone who’s only done one or two recently. Experience and familiarity matter. My patients often tell me what a relief it is to speak with someone for whom GIST isn’t rare, where a third of my clinic is made up of patients with GIST. I talk about treatment options and clinical trials multiple times a day, every clinic day.

That doesn't mean you need to travel to a specialty center for every single appointment or lab draw. You can and should partner with doctors close to home. But it's worth getting a second opinion at a sarcoma center. Groups like the Sarcoma Foundation of America even offer travel grants to help patients reach those centers. So even if money is tight or you live in a very rural area, there are resources to help you get the expert care you deserve.

Most patients find that incredibly helpful and reassuring — even if they ultimately continue treatment locally — just knowing they’ve seen someone for whom this isn’t rare.


Transcript has been edited for clarity and conciseness.

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Dr. Breelyn Wilky explains how vague symptoms and testing challenges delay GIST diagnoses

Diagnosing GIST: Key Challenges and Treatment Insights

Dr. Breelyn Wilky, an associate professor of medicine in the Department of Medical Oncology at the University of Colorado, Anschutz Medical Campus, explains the challenges patients with 

rare cancers like gastrointestinal stromal tumors (GIST) 

One of the biggest hurdles is simply getting the right diagnosis. Symptoms like belly pain, heartburn, or feeling tired are very common and usually caused by something else. Because of that, doctors and patients don’t always think about rare cancers like GIST right away. That’s why awareness is so important, according to Wilky.

A biopsy is crucial to confirm the diagnosis, but sometimes, the tissue sample isn’t clear-cut, and doctors may need to get a second opinion to be sure.

Molecular testing to identify the specific mutation driving the tumor is also key to choosing the right treatment. If the first biopsy doesn’t provide enough material, patients might need another one.

Dr. Wilky, who also serves as the director of Sarcoma Medical Oncology, deputy associate director for Clinical Research, and the Cheryl Bennett and McNeilly Family Endowed Chair in Sarcoma Research at the University of Colorado Cancer Center, UCHealth, stresses that a more streamlined process is vital for patients.

What unique challenges do patients face with rare cancers, like GIST, and what are researchers working to overcome?

There are many challenges when you're diagnosed with a rare cancer. First of all is the awareness piece, like making sure you actually get diagnosed with the right rare cancer is super, super important. When you're first presenting with symptoms, they can be very vague, like abdominal pain, heartburn, or feeling more tired than usual. These are very common symptoms, and in about 99.9% of cases, they’re caused by something other than a rare cancer. Even getting to the point of thinking this patient might have cancer based on symptoms, if they have any symptoms at all, is a big leap.

Then, to go from concerns about more common cancers, like pancreas, stomach, or colon cancer, to considering a GIST tumor growing from the small bowel and causing a weird bloating sensation, that’s even less likely. Part of the challenge is simply knowing that GIST exists, that it’s a real, rare entity with recognizable patterns and that it can be diagnosed.

Sometimes things get confusing. We say, “Tissue is always the issue,” meaning that if you have a scan or symptoms concerning for GIST, doctors will usually do a scope to get tissue and a biopsy. It’s crucial to have that biopsy reviewed to confirm whether there’s a GIST. In some cases, it’s very difficult to tell, and the sample needs to be sent out for a second pathology opinion.

Getting molecular testing and knowing the mutation that’s driving your GIST is extremely important for treatment. If you’re going to start therapy, we recommend testing the tumor, if at all possible. Sometimes the initial biopsy is very small and may not provide enough material. That’s when you should talk with your doctor about whether a second biopsy is needed.

Dr. Breelyn Wilky explains how vague symptoms and testing challenges delay GIST diagnoses; however, molecular testing can help guides treatment decisions.

Dr. Breelyn Wilky stresses the importance of expert guidance and second opinions for patients with GIST, as treatment options continue to evolve rapidly.

GIST Expert Urges Patients to Seek Specialized Second Opinions

Dr. Breelyn Wilky, director of sarcoma medical oncology at the University of Colorado Cancer Center, encourages patients with gastrointestinal stromal tumors (GIST) to seek expert care and stay informed.

With research advancing rapidly and new treatments emerging, she says it’s crucial to get a second opinion from a specialist experienced in GIST. This can help patients better understand their current and future options, as well as potential clinical trials. Because the GIST landscape is evolving quickly, Wilky emphasizes the value of partnering with a provider who is actively engaged in the latest research and developments in the field.

What are the biggest advances in GIST treatment right now? What should patients know?

: The key thing for patients to know, especially as we're talking about just awareness day, is to get educated. Learn about your disease and the research that's being done. There is more research being done, and more new therapies are being developed. The research, understanding, and our tools and expertise are so much better for GIST than most of our other sarcoma types. Therefore, it's worth making sure you get a second opinion or see a provider who really has a lot of experience with GIST.

You don't have to stay there forever, but at least get that initial opinion, have your whole case reviewed, and get educated about your current treatment options, what they might be in the future, and any considerations for your particular tumor that you need to know about. This changes therapy, and there's so much movement in this research space. It's impossible, or at least very, very difficult, for patients to navigate some of the databases out there; even doctors sometimes have trouble finding every clinical trial on clinicaltrials.gov.

The key thing is to see a GIST specialist who has been in these circles, who has gone to the meetings and heard from the companies that are developing these latest and greatest drugs. Get yourself an expert in your corner.

Dr. Breelyn Wilky explains that personalized treatments are helping improve outcomes for patients with gastrointestinal stromal tumors.

Personalized Therapy Helps Tailor Treatment for GIST, Expert Explains

Personalized treatment is helping improve outcomes for patients with gastrointestinal stromal tumors (GIST), as explained by Dr. Breelyn Wilky, director of sarcoma medical oncology at the University of Colorado Cancer Center.

Wilky emphasized that no two cases of GIST are exactly alike, even though it’s the most common type of soft-tissue sarcoma. “I describe my patients as snowflakes,” she said, meaning that everyone’s cancer is slightly different. These differences can influence both prognosis and treatment.

Factors like tumor size, location and growth rate help guide early treatment decisions, Wilky noted. Genetic mutation testing plays a key role as well, since around 80% of patients with GIST have mutations at diagnosis that activate a protein called KIT. Even within that group, subtle differences in mutations can affect how a tumor responds to certain drugs.

Wilky encouraged patients to talk with their care teams about their mutation reports to better understand which treatments may work best for their individual cancer.

How is personalized therapy changing the outlook for people living with GIST?

The key thing for patients is to recognize that even though you have GIST, the most common [sarcoma] tumor, everybody’s a little bit different. I describe my patients as snowflakes. While you may all be snowy and shaped prettily and all those things, everyone’s a little bit different. And that’s super, super important, and we’re only learning more about how important it is as we start to think about prognosis and treatments.

Some of the factors that play into this and how you’re going to do — how your disease will behave, what therapies might be good for you — some of it comes down to simple things like how big your tumor was, where it was located along the GI tract, or how quickly it was growing — what we call the mitotic rate. Those are some of the early things we use to establish these risk scores and predict things.

But then the role of mutation testing — so again, figuring out where in your GIST cell did the mutation happen. As I mentioned, 80% of patients have an activated or flipped-on switch for KIT, and 80% of those have the same sort of spot where the mutation is likely to happen. Even within that, there are subtle differences. Getting your mutation report, talking about that with your doctors, understanding what your treatment options are — is there any evidence that certain drugs might work better for your particular tumor than others? Those are the questions that you want to be asking.

Dr. Breelyn Wilky

Second Opinions Key for Those Newly Diagnosed With GIST

Diagnosing GIST: Key Challenges and Treatment Insights

GIST Expert Urges Patients to Seek Specialized Second Opinions

Personalized Therapy Helps Tailor Treatment for GIST

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