Andrew Pecora, co-division Chief of the Skin and Sarcoma Division at John Theurer Cancer Center, NCI designated Cancer Center in consortium with Georgetown University, talks about genomic sequencing to treat a rare sarcoma.
Interview conducted by Ivanhoe Broadcast News in November 2021.
Is sarcoma considered very rare?
DR PECORA: Sarcomas are tumors that arise from the tissues of our body and are exceedingly rare. In the United States, there’s only four to 6,000 soft tissue sarcomas diagnosed each year. And the subtypes of sarcoma, there’s over 140 of them.
Is there a typical patient sarcoma hits in terms of age or other related factors?
DR PECORA: Yes. So soft tissue sarcomas, there’s a bit of a bimodal distribution, meaning they occur in young children and in older adults usually.
So, your patient Zulema, doesn’t fit either of those two categories?
DR PECORA: No, she does not. She had what is called an intimal sarcoma, which arises from the inner lining of a blood vessel. In the world’s literature, there’s maybe 100 or so reported on. They’re a very, very rare tumor.
Why or how do they happen? What causes them?
DR PECORA: Quite honestly, we don’t know why sarcomas happen. We have some thoughts that it might be due to inflammation, potentially a virus, from prior trauma. But we’re not sure why they occur.
With Zulema, she thought she was experiencing post-covid symptoms, but it turned out different, right?
DR PECORA: Yes. Slowly but surely, the largest blood vessel in the upper part of her body, the superior vena cava that drains all the blood from your face, your head, your brain, your shoulders, and everything above your heart into your right side of your heart, was starting to close off slowly because a tumor was growing inside of it. That tumor not only was growing up and down, but also growing around. What she first realized was just a sense of something was wrong, followed by headaches. Then she started to note her face was swelling. Then she started to note that blood vessels were starting to dilate on her chest, her arms, and the upper side part of the body. The reason for that is the body’s just trying to get blood back to the heart knowing that the major channel is being blocked. She thought she was eating too much salt, or maybe her diet needed to change. But ultimately it hit that critical moment where enough blood was being blocked that she wound up running to the emergency room because she felt like something was profoundly wrong. At that point, her face had swollen severely, and her neck veins were completely dilated. The critical structures in her neck were being pushed to the left, and she could see that too. That prompted medical attention. She had a scan that showed the mass. They did a biopsy and made the diagnosis of the intimal sarcoma.
What were your initial thoughts?
DR PECORA: Before I went in the room, I was looking at the scans and read the record. When I walked in, the first thing she wants to know is, am I going to be OK? And I couldn’t honestly tell her she was going to be OK. A lot of times we can, but sometimes we can’t. And this was one of those times. I just said, well, this is going to be a challenge and we need to do some work. I realized in doing a quick literature search that the standard of care was not going to work. We didn’t have enough time. It’s not that effective. Unless you can have the tumor surgically removed, you cannot cure it. It’s 100 percent fatality rate if you can’t remove it surgically. The surgeons told me we can’t remove this. It’s too big. It’s too far gone. There’s nothing we can do.
But you figured out a way with your interdisciplinary team?
DR PECORA: Where we are, the John Theurer Cancer Center, is a special place with special people who have unique skills that I would say there’s maybe five or 10 places in the world that could have done what we did here. Because we have access to the next generation of genomic testing, we were able to use that testing where we looked at the DNA and RNA of the tumor in a way that had never been done before for an intimal sarcoma. We found a signal from that, an unexpected signal that gave us a path forward where at least there was hope. The problem was we had to use medications that were not FDA approved for this because there are no medications approved because it’s so rare. So, because of our relationships with industry and because we’re an NCI designated cancer center as part of a consortium with Georgetown, we were able to get things that others couldn’t get. Zulema received those medicines and slowly but surely, the tumor shrank. It shrank to the point that the follow-up scans gave the surgeons hope that they might be able to remove it. She then went to the operating room and our cardiovascular team, under Dr. Bastides and our thoracic oncology team under Dr. Nabil Rizk, were able to do something that I consider to be magic. They were able to stop her heart, open her heart and this vein, bypass the blood from the whole upper part of the body to allow them to peel this thing off from the inside of her vein and from inside her heart, then close that all back up again perfectly so that it worked and restarted her heart. The greatest moment, other than her waking up and being OK, was getting the pathology report and showing that the medicines and the radiation we gave her following this genomic pathway, that the tumor was 90 to 95 percent dead. What it meant was we dramatically reduced the chances that this would ever come back or spread and meaning that it’s likely she’s been cured.
How would you characterize this?
DR PECORA: Miraculous. This is a medical miracle. I’m a clinician. I’m a scientist. I don’t use words lightly. I’ve been doing this for 30 years and this is a true medical miracle. There are only a few places on the planet that could have done this that had the requisite skill set, influence on industry, and access to genomic testing that the John Theurer cancer center has as an NCI designated cancer center as part of a consortium. That’s why we’ve worked the last 20 years to accumulate this team of physicians, these sets of capabilities, and the NCI designation. It made us special. The best part is this wonderful twenty-three-year-old young woman is now back to her normal life. Her anatomy is completely reverted to normal. Her face isn’t swelling anymore. Her neck is normal. She can exercise. She feels good. She’s back to doing what she loves, which is teaching young children.
How much time do you think she had?
DR PECORA: Months. These grow incredibly fast. Probably over six months it went from a little nidus of cancer to this tumor that was about this long and about that fat around. The surgery took about 13 hours with the entire team of doctors working together.
Is there anything else you want to add? I would imagine if someone else somewhere in the world is diagnosed with this, they should be coming here?
DR PECORA: When patients have rare and unusual cancers or problematic cancers, they should strongly consider coming to places like the John Theurer Cancer Center. We are different. We are more capable given the resources we have, the doctors we have, and the NCI designation. This is a very special place with very special people that do amazing things.
END OF INTERVIEW
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