Stomach removal eliminates risk of cancer for patient with CDH1 mutation

Can an inherited gene mutation contribute to an increased risk of developing stomach cancer? Physicians Sonia Kupfer and Kevin Roggin join us to discuss the genetic factors of stomach cancer and the comprehensive care offered at UChicago Medicine. That includes personalized assessments and preventative options as well as the unique resources available to patients with this disease.

One of our guests is a patient who inherited the CDH1 mutation and had his stomach removed to eliminate his risk of cancer. Remember, we'll take your questions live coming up right now on At the Forefront Live.

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And joining us today is Dr. Sonia Kupfer, Dr. Kevin Roggin, and the patient John Grossman. We want to remind our viewers that we'll take your questions and try to answer as many as we possibly can over the next half hour, but this program is not designed to take the place of a visit with your physician. First of all, welcome to the program. Thanks for being here.

Thank you.

Thanks.

Thanks for having us.

And if we could just start off and have each one of you introduce yourself and tell us a little bit about what you do here at UChicago Medicine, and John, also about your situation.

Great. My name is Dr. Kevin Roggin. I'm a surgical oncologist and primarily treat cancers of the stomach, pancreas, and upper GI tract. And I also have a strong interest in surgical education and lead our residency program.

I'm Dr. Sonia Kupfer. I'm an adult gastroenterologist. And I direct the GI Cancer Risk and Prevention Clinic here at the University of Chicago.

My name is Jonathan Grossman and I'm a CDH1 mutation carrier. And I am a patient of Dr. Roggin and Dr. Kupfer's.

Great. We'll just jump right into it with the questions. Of course, we remind our viewers if you have any questions, just type them in the comments section. We'll try to take as many as we possibly can in the program. John, let's start with you and have you tell us a little bit about your situation and your journey. You just mentioned that you're a carrier of the CDH1 mutation. What exactly does that mean?

Yeah. So like you said, I'm a CDH1 mutation carrier. My mom carried the mutation and passed it down to me. She received it from her father. And what that means is I have a heightened risk of developing a type of stomach cancer that's a diffuse stomach cancer.

And so the recommendation from the worldwide medical community is for CDH1 mutation carriers to have their stomach removed if they're healthy enough to do so. And the reason being is that without any stomach tissue, you don't have any risk of getting stomach cancer.

So after weighing my options, I decided to have the surgery on June 1st, 2018. So it's been a little bit over a year. And in case it's not obvious, I had my surgery with Dr. Roggin and had counseling from Dr. Kupfer here at University of Chicago.

And Dr. Kupfer, let's go to you next. When you see a patient like John-- and we'll talk specifically about John-- that's got to be a very difficult situation for that patient to be in to make that kind of a decision. That's a big decision. How does that work as far as the counseling? What do you talk to and what do you tell the patient as they're going through this situation?

Sure. So the CDH1 mutation leads to a condition known as hereditary diffuse gastric cancer. And as John had pointed out, the treatment is at this point prophylactic removal of the stomach, or prophylactic gastrectomy.

And it is a big decision. And I think it comes-- you know, we really can't take that lightly. And it's really important that the patient and their family members are at the center of care and that all of the specialists that are needed are all on the team.

So it's a multidisciplinary approach where a patient will meet with myself, with a genetic counselor, with a GI physician specialized in nutrition, of course with Dr. Roggin, and then as needed with other specialists, such as women who need to have high-risk breast cancer screening, et cetera. So it really takes a team effort, and that's what we do here at the U of C.

And Dr. Roggin, you're a portion of the team. You were the surgeon that performed the procedure robotically. Is that correct?

That is.

Explain to us what the process is there. And first of all, when we hear robotically, I didn't even know we did those kinds of procedures robotically. And that's something that's fairly new, right?

It is. I think first of all we're all impressed by John's recovery and how well he's done and that he's become a true advocate for CDH1 carriers. I think the decision to undergo surgery is a really important one. And there's a lot of issues to consider.

I think we try to make it about the patient because the timing of surgery and how we approach it can vary between individuals. But robotic surgery is a unique tool. It's part of our armamentarium.

But it's the same operation that we do when we do this in a traditional open technique with larger incisions. And so ideally the surgeries are the same using both techniques.

And it essentially involves removal of the entire stomach, the surrounding lymph nodes, and then reconstructing the stomach so that patients can eat and drink normally. And it's quite an adjustment in terms of their lifestyle, and they lose weight. But eventually, they get back to normal living.

And so I think John's a really good example of when it works well that you can go out and live your life and be advocates for people that have this disease.

And John, you're an interesting guy. I'm really impressed with you, first of all. I met you a few weeks ago and you told me some of your story. And I was so impressed with what you've done as you were going through the process and then what you've done afterwards as far as being an advocate to other folks who may be facing a similar situation.

Can you kind of tell us what that's been like for you and why that's so important to you to get the word out? You have a blog, website, and you speak with a lot of folks that may be facing a similar decision.

Thank you for your kind words. I appreciate that. Yeah, so for those of you who don't know, I do have a website up. It's www.cdh1gene.com. I encourage you to visit it. It's basically a number of articles that I've written and a few guest bloggers have written sharing my story, and for the guest bloggers, in their case they're sharing their stories.

And it also tries to weave in, the articles try to weave in what the publications say, and the medical journals. And also things that I and my family members have heard anecdotally or learned through experience.

And the intention is to spread awareness for the mutation, let people know that it exists and what the risks are. A lot of people have heard of the BRCA 1 and 2 mutations. That's a fairly highly well-known mutation.

But some of these other mutations that are out there, including the CDH1 mutation, most people haven't heard of. And in addition, they haven't heard of prophylactic total gastrectomy. And so to get the word out, I started this blog, this website.

And also, for me it's been a little therapeutic to write about it and to talk about my experience. So not only am I spreading awareness but it's an outlet for me to help with my recovery.

I think the physical part of the recovery-- it can vary from individual to individual and it's challenging. But in some ways, the mental aspects of the recovery are the most challenging. And one way that I have coped with that is by writing and sharing my story. So that's sort of the story behind the website.

You know, it's interesting. We are in the midst of a pretty significant campaign here at UChicago Medicine-- Together We Answer Cancer. And the together part to me is what really makes all of this work.

Because when we talk to folks like you, John, you talk about your family a lot. You talk about the team that worked with you here at UChicago Medicine. And it's always interesting to me to see just the community and what happens when people come together to fight something like this.

And in your case, as you put it in your blog and you got the information out to people, you've had other people ask you questions. And I don't know. To me, it's really, I think, a spectacular thing that you're doing. And that's great.

And Dr. Roggin said something to me-- and I would love for you to expand on this-- when we did the interview a few weeks ago about learning from your patients, specifically John. I don't know if you can kind of talk about that a little bit.

I think it just comes down to empathizing with your patients and imagining that you're in that scenario. And so for John, it could be any one of us that was in his situation. And so I think of it as he's on a journey, but we're there to guide him.

And I think physicians that pay attention to their patients can learn a lot. And it's both inspiring and also helps me for the next patient that I have with his condition so that I can relate to him better and try to anticipate aspects of his recovery that you might otherwise forget about when you're thinking about the technical side of the operation that's required.

One thing I just wanted to mention-- and I tell every patient this-- is that John asked me to tell every patient that even if they didn't think they needed it that there was psychological care. A psychologist with whom we work. And so I make that available to everyone. And I just say, I promised John. I would say that. And so I definitely have learned and have put it into practice. So thank you.

Well, thank you. Tim, I'd just like to add that I'm not really too unique amongst CDH1 mutation carriers. There are a lot of folks out there who are spreading the word and creating awareness. And I feel like I'm just one voice amongst a bigger chorus.

I've got a couple of cousins who donated money or raised money, who have their own whether it's Instagram or some sort of blog or internet presence. And then I know there's a Facebook group that I rely on heavily called "CDH1 Mutation" where there are a lot of folks who came before me who have done a lot more advocacy than I have.

So if anything, I feel like I'm following the lead of so many wonderful people who have helped the community who came before me.

And you're also very humble.

[LAUGHTER]

So Dr. Kupfer, could you talk to us a little bit about the Cancer Risk and Prevention Clinic? And what exactly is that? And obviously, it played a huge role in John's treatment.

Yeah, so the clinic here at the University of Chicago is unique. And what we focus on is individuals who are at increased risk for gastrointestinal cancers, including of the stomach but also of the pancreas and colorectal cancer.

And our approach is, as I mentioned, multidisciplinary. I work closely with a genetic counselor and with other specialists as needed to help these individuals understand what their risk is through potentially genetic testing, and then to get them on the right path to treatment, be it prophylactic surgeries or increased screening, for example, with colonoscopy.

Great. And Dr. Roggin, you work with these various patients. We were talking a little bit before the show and you mentioned that there are a couple of different types of stomach cancer that people need to be aware of. And one, of course, is the hereditary, and then one is just the sporadic stomach cancers. Can you differentiate between the two?

Sure. By far the most common form is gastric adenocarcinoma, what most people refer to as stomach cancer. And that's a cancer that occurs along the lining of the stomach. And it's similar to colon cancer where it usually can be seen visibly.

And what John had was a unique inherited mutation that predisposes patients to very small cancers that are sort of below the surface. And in John's case, there's no really great mechanism for identifying cancer early.

But stomach cancer, gastric adenocarcinoma, is a different form. And in most patients, the symptoms are very vague in the beginning and it's not discovered until late. And the treatments are different.

And so I think it's important to raise awareness to both conditions and make sure that if you're having symptoms that you seek attention. Because a lot of people delay getting treatment because they're fearful of the diagnosis. And I think that-- we should try to encourage people to talk to their physicians.

What would some of the symptoms be?

Well, the symptoms of stomach cancer, as I said, are very vague. They can be a loss of appetite. Weight loss. Sometimes people will vomit blood or vomit in general. So I think it's hard to pinpoint one specific symptom. But I think by far and away, if you're not feeling well, if you're losing weight unexpectedly, I would strongly recommend people to bring these symptoms up with their doctors.

And Dr. Kupfer, you mentioned the team approach that UChicago Medicine takes for situations like this. Why is it so important? Obviously, there are a lot of folks involved in the treatment. But in John's situation or other people that face this, why do they need all of these people involved?

Sure. So certainly when there's a hereditary condition, we often are doing genetic testing. And so with that comes a lot of questions and counseling that we want to do before and after the genetic testing. In terms of making a decision about surgery, we need to have a surgeon involved.

And then, especially when someone has their entire stomach removed, there are some functions of the stomach that we need to think about, specifically some vitamin deficiencies and how we're going to manage those and also how people eat after their stomach is removed. And that's the reason to have a specialist in nutrition involved. And as I mentioned, for women, there is also breast cancer screening that we do.

So John, let's talk about your situation, because life changed pretty substantially for you after this surgery. And we chatted a little bit about your dietary habits-- how they changed and the things you had to do. Can you fill us in and just explain to us how that all works?

How long do we have?

[LAUGHTER]

We can go all day.

Yeah, absolutely. I'll try to do it succinctly. So one of the most surreal parts through this whole experience has been the voluntary part of this. It's voluntary in the sense that each individual who's a mutation carrier can elect to have the surgery or not. No one is forcing you to. It's an odd situation.

And so one of the most real parts is going from a perfectly healthy individual with no symptoms to someone who now has to make lifestyle modifications and deal with some things that aren't always pleasant or enjoyable.

But the first few weeks after the surgery were probably the most challenging physically in terms of pain from any type of surgery. And then learning how to eat again and learning how to read signals from the body.

So like, for instance, the feeling of hunger is a little bit different now. At first, it was a lot different. But over time, my body has adjusted and my mind has adjusted and knows what signals to read for when I'm hungry.

In terms of what I eat, at this point 15 or so months post-surgery, I eat fairly regularly. I'd say the biggest difference is the volumes. I eat smaller, more frequent meals. If I were out to dinner with you and you had no clue that I'd had the surgery, you probably wouldn't think much of it. I order entrees and usually eat over half, if not the entire entree.

In terms of types of foods, at first the high-sugar foods were probably the most problematic. They can cause something called dumping syndrome which presents itself differently in different individuals.

For me, I would get clammy and feel uncomfortable just sort of generally and get some gurgles in my gut. And occasionally in my mind, I'd have some strange thoughts, like feelings of impossibility and just wanting the situation to end. But I don't think I've ever had an episode last longer than probably 45 minutes, whether it's from eating the wrong food or eating too much food.

And it's just the sugar hitting your system?

Yeah. I can try to explain it. I'm sure one of the doctors would do a better job. But my understanding is that when the excess sugar enters the small intestine, the body reacts by producing too much insulin. And by producing too much insulin, then that's when the symptoms start to manifest. And so it takes time then for the body to readjust and to account for the fact that there's too much insulin in the blood.

And over time, you just kind of developed your own system of dealing with things. And you kind of learned a new way to eat.

That, and I think the body builds up tolerances, just like for people who haven't had the surgery, just like with any sort of substance, whether it's sugar, alcohol, or caffeine. And I think each individual is different. So my experience might be similar to other people's, but it's not going to be identical.

And a lot of it probably depends on what sort of lifestyle you had pre-surgery, what sort of lifestyle you have post-surgery. One of the things that I kept reminding myself and my dad kept reminding me is to just get back to the basics. I had a routine that was designed to be a gentle living or a gentle lifestyle.

I know what that means. I don't if other people do. But so when things would start to go astray, whether it was in month 2 or month 8 or last week, is what I try to do is just to go back to the basics to the types of foods and lifestyle that I know that works for me.

And the times where I've had to do that, it's worked. And I think at this point, it's just the new normal. And it's something that I've grown accustomed to and will continue to be accustomed to.

I want to remind our viewers, if you have any questions for our experts or for John, please just type them in. We'll get to them. If you have a family history of stomach cancer, what should you do? Do you need to be aware of that? Is that something you should be concerned with?

Yeah, definitely. Certainly when we see the same type of cancer in multiple family members or certain combinations of cancers like stomach cancer and a specific type of breast cancer called lobular or breast cancer.

But also if there's breast cancer and pancreatic cancer or colon cancer and endometrial cancer. Those are reasons to talk to your doctor, at least. To start the conversation and ask whether genetic counseling and testing would be a value.

It should be noted also that for stomach cancer in particular-- not the diffuse hereditary kind, but for what we were talking about before, the adenocarcinoma-- there are other risk factors. So for example, an infection of the stomach called helicobacter pylori is something that multiple family members could also be infected with. And that could be the reason why there seem to be multiple people in the family.

But that's something that people can be tested for and treated for and could potentially prevent stomach cancer as well. So definitely if there are multiple family members, it's worth asking your doctor and certainly coming to see someone at a center like ours.

And Dr. Roggin, can you talk to us a little bit about the procedure itself and exactly what it entails? What do you do when you're doing one of these procedures?

Sure. Well first, we want to make sure that the stomach is entirely removed. I think that's critical for CDH1 gene mutation carriers. Because if you can remove all of the stomach lining, you reduce the risk of them getting stomach cancer in the future.

For patients with gastric adenocarcinoma or stomach cancer, the operation may change depending on where the tumor is located in the stomach. And for those patients, we try to conserve stomach as much as possible.

And then comes the, once you've removed the cancer and ensured that you've removed all the stomach, then it's about re-establishing continuity of the GI tract so that people can swallow normally, food can go into their intestine, and you can absorb the nutrients.

So there's a variety of different ways that that can be performed. There are reconstructive techniques that involve recreating a pouch. And it's controversial whether that's really helpful for patients. And then obviously it's important to make sure that the operation is done safely and that they recover.

There are multiple different approaches, whether it's open, laparoscopic, or robotic. And I think as long as you're doing the correct operation that's what's most important. There may be some slight advantages in terms of recovery because the incisions are smaller with a minimally invasive approach.

It may be more costly to the patient. And so we always try to factor in all those factors and present them with options and are facile at doing any technique that is individualized to the patient.

And you have to watch the patient for a time afterwards to make sure that everything is working properly. Is that correct?

Absolutely. I think the post-operative recovery immediately in the hospital is the most challenging because there can be complications that can occur. And this operation, if you look at whether it's done open or robotically, is associated with complication rates that can be 25% to 50%.

And our job is with experienced nurses and really involving the family members is to make sure that we prevent those kind of complications, or if they occur, identify them early and offer the patient's treatment.

But yes, the inpatient recovery is challenging. But I think, as John was alluding to in his story, it's a lifelong recovery. And there's different stages of recovery.

And Jim, sorry to interrupt you. To sort of dovetail off of Dr. Roggin's point about the complications is not even knowing what the complications were, when I first heard that the recommendation for mutation carriers was to have the stomach removed, my first reaction-- I didn't know if I had the mutation or not at that point.

And my first reaction was that that was crazy. That if I had the mutation, that I would not have my stomach removed. But then at the time, my mom was sick with the disease. She had diffuse stomach cancer. And so I was watching her experience dealing with the disease.

Meanwhile, I had an aunt and a cousin who had their prophylactic gastrectomies. And I was watching them recover from their surgeries. And comparing those two different scenarios, my mom suffering with the disease to my aunt and cousin and recovering from their gastrectomies, my mindset totally flipped and I thought it was crazy to not have the prophylactic gastrectomy.

Because my mom just consistently kept getting worse, whereas my aunt and cousin kept getting better. And they had complications. They had they both had some significant complications. And despite those complications, it still was apparent to me that there was no question that having the surgery was the way to go.

Huge decision, though, on your part. And you went through the process. You talked with Dr. Kupfer, I would imagine.

Absolutely

And that helped you make that decision.

And just to point out that with this diffuse gastric cancer, if there were a way that we could detect it early through endoscopy or through a camera that we use to look into the stomach, we absolutely would do something like that. Unfortunately in this condition, we don't have that possibility because the diffuse gastric cancer doesn't grow as a mass or as an ulcer.

It tends to grow into the lining of the stomach and it's really, really hard for us to detect. I tell patients it's like a needle in a haystack. We hope that we can get better with that. But even with taking many, many, many biopsies, it's still very hard to find the cancer.

And so that's another reason. If there were another way to detect this cancer early, of course we would be doing that. And hopefully in the future, we'll have something like that with more research in this area.

Just to point out that for individuals who are not at risk for the hereditary diffuse gastric cancer type, doing endoscopy is still a way that we can potentially find adenocarcinoma early. Often, as Dr. Roggin had mentioned, it can present as something that we can see when we do endoscopy. It looks like an ulcer. It's a non-healing ulcer. It looks like a mass. And we can also, as I mentioned, detect H pylori.

So this is not to say that there is no role for endoscopy for stomach cancer at all. It's just that in the diffuse gastric cancer type, we have a very hard time finding it.

We do have a question from a viewer that I'd like to ask you doctors. "Do my three children have an increased risk for gastric cancer because their father has gastric cancer? Is any early screening available to them in the United States?"

So with one first degree relative, the risk is not necessarily increased. As I mentioned, there are other factors besides genetic factors. So for example, getting tested for H pylori is a consideration for the children depending on how old they are.

Also, doing more extensive digging in the family to determine if there are other cases of stomach cancer, what type of stomach cancer the father had. All of those factors are important in our risk assessment to determine whether something is likely to be hereditary or not.

So are there other cancer risks that are associated with the CDH1 mutation?

Yeah. So the main other risk is in women for a type of breast cancer called lobular breast cancer. And so that risk is estimated a lifetime risk of about 42% for women. And as a result of that high risk, we do recommend all of our mutation carriers undergo high-risk screening. And they do that through MRI and mammography. And some actually choose to have prophylactic mastectomy.

As of now those are the main associations for cancer. There was at one point a concern for an association with colon cancer, but that really has not been borne out. And then there are some other associations with cleft palate, cleft lip, for example. So these are all factors that we take into consideration when we do risk assessment and look at a family history.

So John, I want you to kind of close us out. I just, again, talking with you, you're an impressive guy. You're always learning. You're trying something new right now, which I think is great. And you're working on this website and sharing your information and your knowledge with people.

What does the future look like for you? I mean, you're doing quite well, obviously. Are you excited about the future? This is not holding you back at all.

I am very excited about the future, yeah. This is not holding me back at all. I joke with some family and friends that it's really difficult for me to engage in small talk these days because there's really no part of my life that lends well to small talk. But yeah, I'm very excited about the future.

I would like to point out that I think one of the most important parts about raising awareness for this situation or whether it's some other health situation is seeking out answers when you can and being your own best advocate. And there are amazing doctors and caregivers out there. But at the end of the day, you have to be your own best advocate.

And my family is a living example. We had all the information available to us and all the tools available to us to prevent my mom's early death. But because the information wasn't presented to us in the right way and we weren't necessarily looking in the right places, we missed that opportunity.

But the connection between this mutation and the disease was discovered in the late '90s. We had a cousin of my mom's, a distant cousin of my mom's who passed away from diffuse gastric cancer. Genetic testing was high enough quality at the time and prophylactic gastrectomy was also a possibility. All of those before my mom died.

So had we been able to connect all those dots, maybe we maybe I wouldn't be sitting here talking today. Or I would be telling a slightly different story. So I encourage those of you who have any questions about your health situation or genetic predispositions-- I encourage you to look into it and not necessarily let critics or criticism get in your way.

Because if you have an instinct or a feeling out there that something about your or your family's health situation is amiss, then I encourage you to look into it and to not let any obstacles get in your way.

And we have some pretty good physicians that'll help you with that.

Absolutely.

That's all the time we have for the program today. Thank you very much for doing this, guys. We really appreciate it.

Thank you.

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