Diagnostic expertise leads to recovery from rare cancer: Alison O’Neill
After what looked like a blemish turned out to be angiosarcoma, a rare, life-threatening cancer of the blood vessels, Alison O'Neill was put on an aggressive treatment plan and regenerative approach to healing made possible by the pathologist who first diagnosed her
Alison O’Neill had always been a healthy, athletic person, who loves to travel with her husband. Then she noticed a bump on her right cheek that wouldn’t go away. Initially, she was told it was a clogged oil gland. But being proactive about her health, Alison asked for a biopsy (outside of Mayo Clinic). The result came back as a form of non-aggressive cancer with low risk of spreading. Alison then came to Mayo Clinic to have it removed, after which her care team ordered a more extensive biopsy. The biopsy revealed an angiosarcoma, a rare, life-threatening cancer that forms in the lining of the blood vessels.
Though the news was daunting, Alison was fortunate her cancer type was recognized.
“Only a handful of pathologists are specialized in diagnosing this kind of rare tumor when they see it,” says Alison’s surgeon, Brittany Howard, M.D., who specializes in facial reconstruction at Mayo Clinic‘s Arizona campus. “Thankfully, we have one of the world’s experts.”
Brandon Larsen, M.D., Ph.D.
That expert is Brandon Larsen, M.D., Ph.D., a pathologist in the Department of Laboratory Medicine and Pathology, also at Mayo Clinic in Arizona. “This kind of cancer is sneaky and can go unrecognized for a long time from a clinical standpoint,” he says. “The tumors look like something benign. They don’t produce an obvious lump. They just sort of percolate through the tissue, often producing a colored lesion on the skin that looks like a bruise that's sort of pigmented and reddish, or purplish, and splotchy. That’s the first problem — and one reason they go unrecognized for a long time. And then, by the time a patient finally gets a biopsy, it can be very tricky for a pathologist to diagnose, too. So, they're tricky in a number of ways.”
Because this is such a rare and “sneaky” cancer, few health care providers know how to diagnose or deal with angiosarcomas. “It’s so rare that most doctors might only see one case in their entire career, or maybe never see one,” says Dr. Larsen. “And the same thing is even true on the backend, for pathologists working in a laboratory who confirm diagnoses. A pathologist might only see this under the microscope once or twice in a career. So they're not trained to recognize what it is, that it's a problem.”
Conversely, Mayo Clinic does routinely see the most rare and difficult cases from outside clients wanting answers. Hence, Dr. Larsen has become very comfortable with rare cases like angiosarcomas.
“My wife sometimes asks me how I do what I do, and I tell her that, when I see things under the microscope, it's all about pattern recognition,” says Dr. Larsen, who likens this to the unique cacti found in Arizona. “If you're not from the desert southwest, you’ve probably never seen a barrel cactus or a saguaro cactus in your life. You don’t instantly know the difference between them. Saguaro cactuses are really tall, and they have arms, but there are also shorter ones, younger ones, and older ones with more arms or fewer arms or whatever. But you would know this if you were living here. You would know this if somebody pointed out the difference to you many times,” he adds. “So that pattern recognition is how I can do what I do. I look at the tumor under the microscope and my brain instantly tells me it's a barrel cactus, it's a saguaro, it's angiosarcoma. But unless you've seen a whole bunch of angiosarcomas before, you won't recognize it — even when it is staring you in the face.”
In short, the training and confidence required for Dr. Larsen’s level of specialization means having access to the best teachers/colleagues as well as a “whole bunch” of real angiosarcoma cases to learn from.
“Photographs in textbooks just aren’t the same,” he says. “At Mayo Clinic, we have all of these resources and expertise available to us, so we’ve become comfortable caring for patients with these rare problems.
It's sort of a self-fulfilling prophecy, too, because in the medical world, people know that Mayo will often have answers when other people won't, and so they refer patients to Mayo because they're sort of at the end of their rope, and they're not sure what to do next. So we continue to gain experience in these weird, challenging problems that people have. And that reputation, here at Mayo, is maintained and built over decades.”
As for Alison, because these tumors are so dangerous, an area the size of a baseball was removed from her right cheek. The wound took 100 stitches to close. Skin was then transferred from the rest of Alison’s face, neck, and collarbone to rebuild the cheek — part of an emerging practice of regenerative medicine. Although her road to recovery has been arduous, Alison maintains a positive outlook. “What my body has done in terms of healing is amazing,” she says. “Regenerative options are offering us a way to march forward with our head held high and looking the best we can."