Don’t forget to read Part 1, where we discuss Dr. Maleddu’s background, why she chose to specialize in medical oncology, what a desmoid tumor is, and its symptoms, causes, and treatments. In Part 2, we will discuss barriers to treatment, the current treatment landscape, potential future research, and advice for the newly diagnosed.
Barriers to Care for Those with a Desmoid Tumor
Much like with other rare conditions, people with desmoid tumors often receive misdiagnoses before receiving an accurate diagnosis. In part, this is because of the small prevalence of desmoid tumors. General practitioners and pathologists may only see 1-2 cases in their entire career. This often transitions into management that doesn’t totally control the tumor.
To overcome this, Dr. Maleddu has worked to provide accurate information to every stakeholder she can think of: patients, caregivers, healthcare providers. In fact, at CU Anschutz, she also offers a full day of desmoid teaching in August to help healthcare professionals become more comfortable with desmoid tumors and to think of these tumors when examining patients.
Addressing Misconceptions
With many conditions – both rare and otherwise – there is often a great deal of misconception or unclear information floating around. However, Dr. Maleddu expresses, there are not a ton of myths or misconceptions with desmoid tumors compared to other tumors. This is because of informative patient associations and relatively accurate information online. At the same time, Dr. Maleddu shares that one big myth that needs to be addressed is the idea that a desmoid tumor needs to be removed. She says:
Research has shown that this is no longer the right approach because surgery is hardly curative. Desmoid tumors are infiltrative. They tend to have ‘tentacles’ when they grow so it’s really hard to achieve a complete resection. Plus, the trauma or surgery can prompt it to grow.
Dr. Maleddu goes on to explain that around 20-30% of patients with desmoid tumors will experience spontaneous regression: the desmoid shrinking or disappearing.
Therefore, if you or someone you know has a desmoid tumor, please be sure to speak to your care team about what is the best therapeutic option.
The Current Treatment Landscape
Although there are problems associated with surgical resection, Dr. Maleddu states that it is never an “absolute no.” Rather, surgery is just reserved for specific patients. For other patients, there are a variety of medical treatments in which quality has greatly improved over the last few years.
For example, chemotherapy achieves shrinkage and pain control. But these can come with a lot of side effects, potentially requiring additional management. TKIs – a targeted therapy with less side effects – can be taken orally and for a long period of time without significant toxicity.
There is also cryoablation, a minimally invasive treatment that uses a needle to deliver a cold gas into the desmoid tumor, freezing it. Using alternating temperatures on the inside and outside of the tumor, cryoablation kills desmoid cells. This has had great outcomes in terms of pain and disease control.
Dr. Maleddu also shared that there could be a new addition to the treatment landscape: nirogacestat. Data from a large Phase 3 clinical trial found that nirogacestat is effective, safe, and well-tolerated. Over 140 patients enrolled in this trial. Another trial also looks promising. Dr. Maleddu shares:
Neither of these therapies are available at the moment, but I’m hopeful that they will be soon.
Future Desmoid Tumor Research
The new trials looking into therapies for desmoid tumors look extremely promising. But what other research can or needs to be done to provide the most benefit for patients? Dr. Maleddu shares:
I’d like to see studies focusing on finding and understanding prognostic factors and better treatments. Prognostic factors are indicators that tell us what behavior each single desmoid tumor will have. We don’t have any observational information that can help us to understand what makes one tumor aggressive and locally damaging and what will not. Research can help us determine which patients need which treatments.
The Challenges and Rewards of Caring for Patients
Caring for patients can sometimes be emotionally difficult for doctors, who want to ensure that their patients have the best help and quality-of-life. When it comes to desmoid tumors, these tumors can often affect quality-of-life; they cause pain, loss of function, and deformities in some cases. For Dr. Maleddu, this is one of the greatest challenges: blending pain management and improving quality-of-life while also managing patient expectations. She shares:
Some people wonder why we can’t just cut the tumor out and forget about it, especially if it’s not cancer. I find it hard sometimes to explain that surgery isn’t in their best interest.
Finding that ideal treatment option and getting patients set up with an effective option – well, that’s one of the most rewarding parts of the job. Dr. Maleddu feels incredibly fulfilled when patients visit her again with a smile, saying they feel like themselves again.
Advice for the Newly Diagnosed
As you’ve read many times so far, desmoid tumors are not considered to be “cancer.” However, when you’re looking for some assistance or information, you should turn to a sarcoma center or specialist. These specialists understand how to deal with and manage desmoid tumors, and management within a specialized center can help improve patient outcomes. Dr. Maleddu, as advice to people who are newly diagnosed, says:
If you can’t find a specialist nearby, I think it’s worth traveling for the first appointment or even every once in a while, because a sarcoma specialist does change the way your tumor is managed. These centers can also help you get on a clinical trial. Sometimes those have drugs that really work.
If you are looking for help finding one of these centers or pursuing treatment, please contact Dr. Maleddu at UC Anschutz or the Desmoid Tumor Research Foundation.
