When you hear hoofbeats, consider zebras

You might be familiar with the saying ‘when you hear hoofbeats think horses, not zebras’, which means you should consider the obvious options first before the unlikely options. This saying is what gave neuroendocrine tumors the zebra stripe ribbon design.

“Most physicians, because this is a rare tumor, do not encounter anyone with a neuroendocrine tumor their entire career,” said Steven Colquhoun, MD, a professor of surgical oncology here at the Georgia Cancer Center and Medical College of Georgia at Augusta University.

Four in 100,000 adults are affected by neuroendocrine tumors each year according to the National Cancer Institute, which showcases the rarity of these tumors.

These cancerous tumors develop where endocrine cells are present. Since endocrine cells help regulate multiple body functions, including reproduction and metabolism, tumors can develop in areas all over the body. Due to the range of areas they can target, symptoms will vary from simple fatigue to severe gastric ulcers, making diagnosis difficult.

“They are rare, they’re zebras, so most doctors aren’t thinking of it. Not everyone with indigestion has a neuroendocrine tumor, but most patients with neuroendocrine tumors may have symptoms that sound like indigestion. So, they’re so nonspecific that most patients get treated like they have an irritable bowel for years. They carry a diagnosis and a treatment for something that, in retrospect, they never had,” said Colquhoun.

Neuroendocrine tumors have a multitude of different names, including carcinoid disease, carcinoid syndrome neuroendocrine tumor, and neuroendocrine neoplasia. This can make self-research difficult for patients who might try to uncover what the doctors cannot.

“I started researching a little bit, but I never found neuroendocrine tumors,” said Linda Biller, one of Colquhoun’s patients who waited a decade to uncover what was going on after multiple misdiagnoses “I’ve been diagnosed with a bowel obstruction and I’ve had my spleen removed because of the symptoms. No one could figure it out. Then one day I had to take my husband to the emergency room, and I happened to get sick. The doctor who took care of me knew what the problem was right away and ordered the tests for it.”

In order to diagnose it, there are very specific blood tests a patient must get that are not on any normal panels, which is another difficulty layer to diagnosis.

“Someone would have to think of this diagnosis in order to order the special tests, which usually have to get sent out to a lab far away,” said Colquhoun. “At that point, you’re just proving it and looking for the extent of the disease.”

Once the diagnosis has been made, the treatment can begin. Like many other cancers, there are multiple treatment options. Surgery, chemotherapy, hormone therapy, and targeted therapies, are used in the treatment process, depending on the stage and location of the tumors.

“There have been several national trials over the years to get us to where we are now. One of the advantages of having a cancer center is being able to enroll patients in trials and participate in furthering our general knowledge. The treatment options have evolved amazingly. I mean, we used to just have one drug and one scan and now there’s a number of drugs and ways to not just treat the tumor, but the symptoms.”

Colquhoun’s current goal is to continue building his care team here for neuroendocrine tumors and to make Augusta a center for care for this rare cancer. He also aims to raise awareness so patients, like Biller, do not have to suffer through misdiagnoses for years to come.

If you would like to hear more about Biller’s story and learn more about neuroendocrine tumors, check out our latest episode of a Cancer Conversation down below.