Transcription:
Clinical Management of Hereditary Colorectal Cancer Syndromes

Melanie:   Welcome to Better Edge, a Northwestern Medicine podcast for physicians. I'm Melanie Cole, and I invite you to listen as we discuss hereditary colorectal cancer syndromes. Joining me is Dr. Mohammad Abbass. He's an Assistant Professor of Surgery in the Division of Gastrointestinal Surgery at Northwestern Medicine.

Dr Abbass, welcome to the program. Tell us a little bit about your background and expertise in the area of hereditary colorectal cancer syndromes. And you're new to the area, so please tell us a little bit about how you came to Northwestern medicine.

Dr Mohammad Abbass: I'm definitely new to the area. I've only moved to Chicago two months ago coming from Cleveland. I spent the past seven years at Cleveland Clinic finishing my training. I'm trained in general surgery, did a fellowship in colorectal surgery after, and was really privileged to finish one year training advanced in hereditary colorectal cancer syndromes. It's not a common program in the country or in the world. And I was really the first person who just pursued an advanced training in that field.

It's a funny story. It goes back to my training in general surgery. I was just really on service with Dr. Matt Kalady who was one of the pioneers in the field and the States and in the world. And he was just really explaining the background of   sessile serrated polyposis, and the genes that are involved in the cancer and the evolution of the disease. And I was really fascinated. I ended up spending a lot of time with him and Dr. James Church, who was also one of the pioneers in the field. And honestly, out of curiosity, I was like, I really want to learn about those diseases, but I don't want to spend 10 years of my career just gaining experience. And they suggested that we just work on designing a fellowship that focuses on the field.  

Under their mentorship really, we got some funding and we're able to design the fellowship. And I was really the first fellow that did it. And really our objectives out of this fellowship were to really, first of all, have a trained surgeon who finished their training in colorectal surgery, understand more the genetic predisposition to cancer, gene penetrance and what does that mean? The multidisciplinary care of families with those syndromes, because it's not really just an operation or just a simple disease. It entails a lot of details. To be involved in research also that focuses on those patients and their outcomes, and really be an integral part of guidelines and being involved in those patients' care on a bigger scale.

So I was thrilled to be the inaugural fellow and I was more excited. I had an opportunity to join Northwestern where they wanted to build the field and build a center that focuses on those patients.

Melanie: How very cool. I'm sure you're going to be a tremendous asset to Northwestern Medicine, Dr. Abbass. So tell us a little bit about some of the hallmarks or clinical features that are associated with inherited colorectal cancer syndromes. And tell us about any prediction models that have been developed to facilitate the identification of patients and families. You mentioned families and so tie that together for us.

Dr Mohammad Abbass: in order to understand the risk of those patients and how the disease process has changed and the diagnosis over time, you have to think of the history of those syndromes. Really, the field is only a couple of decades old. And initially when people started recognizing those syndromes, the way we understood them was based on phenotype. And what that means is just the way those diseases just showed up in patients. So you'd have a patient that had a colon cancer and then developed a desmoid tumor and an osteoma. And then people started correlating those things together and they linked them to families. And then they started naming those syndromes. And that was the way we looked at those things a couple of decades ago.  

If we take Lynch syndrome, for example, people realize that there's a certain pattern where-- they called the Amsterdam criteria. For example, you'd have three individuals in a family over two generations. One of them was always under the age of 50, so that means you had Lynch syndrome. Nowadays with the advances that we have in science and our knowledge of the genetic predisposition to disease, we're able to identify those syndromes based on their genes. And we're really able to estimate the risk of cancer based on what mutation each patient has. And not only just what mutation, what exact pathogenic variant they carry.

Melanie: It's such an interesting field that you're in, Dr. Abbass. So what are some of the most recent developments and advancements in the clinical management of the most commonly encountered hereditary colorectal cancer syndromes? You mentioned Lynch syndrome. Tell us a little bit about anything exciting, any game changers.

Dr Mohammad Abbass: When you think of those syndromes, when people in the past used to manage them, it was always about operating on those patients whenever you diagnosed them and trying to decrease their risk of cancer, because you were always worried they're going to get cancer. Now we have a better understanding of the natural progression of the disease and how does cancer develop.

So I'll give you two examples. For example, if we take patients with FAP. So those patients start developing polyps throughout their early life from age nine, ten, and we started doing early colonoscopies on them. When it comes to people who don't see those cases more often, you notice that they'll offer those patients surgery early on in their life, because they're just worried about their risk of cancer and they're really trying to just offer the patients a good operation to prevent them from developing cancer.

We try to think of it in a different way. We think that we know the estimated risk of cancer. We know what age it develops. And we try to just offer those patients repeated colonoscopies every single year. Let them grow up to finish their high school. And if we don't have a real reason to operate on them, we'll offer them surgery after their high school. So it's not about just operating on all those patients straight up just out of fear. We know the disease and we understand it better now.

If we look at patients with Lynch syndrome, as a rule, we don't operate on those patients until they develop a lesion that's concerning to cancer. So we start with colonoscopies and we just follow them with surveillance every single year based on their family history and based on what pathogenic variant they carry. And sometimes when we're designing surgery for them, we'll try to combine multiple surgeries together to reduce their risk of cancer at the same time.

Melanie: I think one of the most important aspects of this topic, and as you've mentioned it a few times briefly, is clinical evaluation and risk reduction, prevention. Do you have some recommendations for other providers about this identification and educating their patients on risk reduction or prevention, any of those things?

Dr Mohammad Abbass: Yeah, we talked about FAP patients, for example, and we said initially, when we operate on those patients, we want to minimize the risk of colorectal cancer.   So when we see they have thousands of polyps in their colon, we try to do a total colectomy, which is really reducing the risk of colon cancer. It becomes tricky when you're deciding what extent of operation you're doing on those patients, because there's still risk for rectal cancer.

So people will use to say in the past that if patients had 20 polyps in their rectum, we should do a total proctocolectomy on them and remove their colon and rectum at the same time. Doing such a big operation on patients is okay, but we try to do the least possible in order to achieve our goals. We don't want to affect their quality of life when we're trying to give them an operation that's trying to save their life from another aspect. So really you have to always balance what risk they have and what kind of operation you're offering to prevent the risk of cancer.

Patients with Lynch syndrome, for example, you run through the same problem. You could offer them a total proctocolectomy, removing the colon and the rectum at any age just assuming that they're going to develop cancer at some point in their life, but that's really not the right decision. Really the best way to think of it is you have a colon at risk. You should have people that are experienced in doing colonoscopies on those patients or upper endoscopies that are able to follow these patients every year and based on how their colon is changing and how their disease is progressing and what signs they show us and based on their family history, then we decide what is the right time of an operation for them?

Melanie: So given that quality of life is a primary outcome measure, as you've just stated, walk us through Northwestern Medicine's management decision-making process. How is this multidisciplinary approach working for the team?

Dr Mohammad Abbass: I'll mentioned Cleveland Clinic at the beginning. When I came   from Cleveland clinic, we used to say, "Patients first" a lot, and I was thrilled that this is something you hear a lot in Northwestern. Whenever you talk about patients or whenever you are in meetings or in conferences, people say, "Patients first."

And when you think of patients first, it's not about what you can do to help them through a disease process only. It's about maintaining their quality of life and maintaining their health. And that's a big goal to aspire. So when we think of patients, like I gave you the example for a little child with FAP, if you offer them a total proctocolectomy, which removing their colon and the rectum at the same time, at age of 12, you're not doing anything wrong. You're really decreasing the risk of cancer and trying to help them. But think about their quality of life. This is a child that's going to live with a pouch or with a stoma when they're age of 12.

If we can really think of the quality of life of that child and think, "Okay, maybe it's better to do endoscopies until they finish their high school. They're already mature. They finished their early school ages." Now we'll think, "Do they need that colectomy only or a proctocolectomy at the same time?" So you're really trying to think of what is better to do for the patient. Both options are right from a cancer prevention standpoint, but from a quality of life, they're not.

If you take, for example, patients with desmoids, with FAP would develop desmoids and people would see those tumors on CT scans and they think that they just need to remove them, because they're a tumor. Number one, they're not a cancerous lesion, so you don't have to operate on it every single time you see it. Number two, operating on it, you have to understand that you're causing more problems and increasing the risk of developing more desmoids and then you're making the patient prone to multiple operations after. We try to think of it from a quality of life standpoint.

So I see those patients, I see what symptoms they have. I try to manage them with medication only if I need to and if I have symptoms. And I'll only operate on them, if I have to. And the decision of what kind of operation I'm going to proceed with is based on the discussion that I'm going to have with a patient and what goal are we both trying to achieve.

Melanie: Is there any research that Northwestern Medicine's team is working on now or what's next for your research?

Dr Mohammad Abbass: The best thing about Northwestern is it's such a massive academic place. And there are so many things that are going on. I've only been here for two months, but I've been involved with three or four groups that are working on separate topics that involve patients with hereditary colorectal cancer.

I think the biggest thing we're trying to focus on right now from   a systems standpoint is standardizing the care and the way we follow up those patients. My goal is when patients   with hereditary colorectal cancer shows up in my clinic or in a gastroenterology clinic or any clinic, they're enrolled in a prospective registry where we are able to maintain close tabs on their surveillance. So if I feel like every couple of months, there's a patient that's delayed on their colonoscopy or their upper endoscopy or their dermatology appointment, I'm able to send them a message to tell them you're behind on your surveillance. So it's really just   offering better management of their overall care. And that will really help patients and we'll help clinicians, because clinicians don't have to stress out about what are they missing or what other things they need to do.

From a research standpoint, there's multiple exciting things that are going on. Northwestern is a big system and a big university. There's a lot of scientists that are working on basic science projects that are helpful with cancer prevention for those patients. And from an epidemiology standpoint, there's a big group that's working on a big national project that studies really the gene penetrance and its correlation with the environmental factors and how cancers develop in those patients, not just because of what gene mutation they carry, it's because of what environmental factors they have and what other confounders relate to them.

Melanie: Such an interesting topic, Dr. Abbass. What else would you like gastroenterologists to know? And when do you feel it's important that they refer to the specialists at Northwestern Medicine? And kind of reiterate for us the importance of what you're doing now.

Dr Mohammad Abbass: I always think the field of hereditary, colorectal cancer is a field that a lot of people know of it and about it, but it's easy to know what's on the surface than the details. And I don't expect every clinician to know the details of the field and what are the most recent recommendations or guidelines. I always say me and the team are just a resource for everyone. If you just need an advice or have a question from a clinician or a provider standpoint, just reach out and I'm happy to help and walk you through any new recommendations or guidelines.

From a bigger picture standpoint, I usually tell people when you see one of those patients, it's okay, just send them to us so we can enroll them in the registry. They can follow up with a provider that they're seeing every day, but we can help in managing their health and their surveillance from a big picture standpoint, not just in the details of their care. That's really the best thing we can offer clinicians and patients, is really managing their care and making sure that the recommendations that they're getting are really up-to-date recommendations.

Melanie: It is great information. Dr. Abbass, thank you so much. And we're so glad to have you join us on the show. Come back as you develop this program more, if you would. And to refer your patient, please visit our website at NM.org/DHC to get connected with one of our providers.

That concludes this episode of Better Edge, a Northwestern Medicine podcast for physicians. Please remember to subscribe, rate and review this podcast and all the other Northwestern Medicine podcasts. I'm Melanie Cole.