Kidney Cancer Awareness Month: Spotlight on Genetic Counseling With Hiam Abdel-Salam, MS, CGC, and Donika Saporito, MS

In this interview for Kidney Cancer Awareness Month, Hiam Abdel-Salam, MS, CGC, speaks with Donika Saporito, MS, a Certified Genetic Counselor in the Genitourinary Center at MD Anderson Cancer Center, who provides an overview of genetic testing for hereditary kidney cancer syndromes and how she personally counsels the patients she sees.  

Hiam Abdel-Salam, MS, CGC: Since it’s Kidney Cancer Awareness Month, I thought this would be a great opportunity to discuss the overlap with kidney cancer and genetics. Donika, thanks so much for doing this episode, letting us learn a little bit about what you do and talking about hereditary renal cancer syndrome. To start us off, would you mind telling us a little bit about yourself, how you got into genetic counseling, and then also how you got into the kidney cancer space?

Donika Saporito, MS: Definitely. I initially wanted to go into genetics because my brother has cystic fibrosis, which has nothing to do with kidney cancer, but when I was young, I think my parents really would’ve benefited from having somebody who could guide them in understanding cystic fibrosis and genetics in general—understanding the impact on our family and what the implications would be. We had the opportunity to work with so many special experts that understood cystic fibrosis, but they just didn’t have anybody to guide and educate them. During my training, I had the opportunity to attend The Ohio State University, which has a very robust cancer program, and then I was also at Yale for a cancer fellowship.

Those two experiences gave me insight into how a genetic counselor could really help patients navigate an inherited cancer syndrome and gain from genetic testing—both for themselves if they were currently affected, but also for their families—and provide that guidance. In my role now, I just hope that patients feel like they can reach out to their genetic counselor at any point and receive guidance or support. Here at MD Anderson, I’ve had a chance to work through some of the different clinics and have landed here in the genitourinary (GU) clinic. I have really enjoyed the clinic itself as well as the patient population, so I’m really thankful for that.

Ms. Abdel-Salam: It’s really nice to hear that there are so many different journeys on how we end up being a genetic counselor. I like how you said that one of the great things about what we do is that we can be that grounding person as they’re navigating these different specialty providers. I love how your personal experience and your training really got you to be that person for other patients as well.

There are so many different specialty centers that we get to be a part of. What do you usually think about as far as patients that you like to make sure are getting referred for kidney cancer syndromes or hereditary kidney cancer syndromes?

Ms. Saporito: The key recommendations, I would say, are based on personal history—if someone’s diagnosed younger, and usually 47 is the age that we recommend; if they have multifocal or bilateral lesions in their kidneys; if they have histologies that are associated with hereditary kidney cancer, typically papillary type 1 or 2 or chromophobe or oncocytic tumors; and then sometimes pathology can also be an indicator. Sometimes we find that there’s a loss of FH and that warrants further assessment. That’s all personal history. Then of course, if anybody is affected with kidney cancer and has a family history of any kidney cancer, that would also be a good recommendation to meet with genetics and look into that further.

Ms. Abdel-Salam: Do you feel like there’s a degree of relationship as far as how close or how far out you’ll usually want to think about having patients referred based on family history or thinking about testing based on family history?

Ms. Saporito: With testing, usually we look at first or second degree. We don’t always say that specifically because I think that trips some people up in terms of if they should refer—who’s a third-degree relative, or is this a second cousin or a first cousin once removed? I think if there’s a close family history that the patients themselves are reporting, we say to bring them to us, and then we can decide if that appears to be suggestive of testing or not.

Ms. Abdel-Salam: That makes a lot of sense.

Ms. Saporito: It’s hard for everyone to know exactly how to interpret family history.

Ms. Abdel-Salam: I think that’s the most ubiquitous thing with genetic counseling, that patients don’t always know everything about their family, so we try to make it as easy as possible for them.

Ms. Saporito: Exactly.

Ms. Abdel-Salam: know the menu of conditions that you’re usually thinking about in the back of your mind include von Hippel-Lindau (VHL), Birt-Hogg-Dubé, hereditary leiomyomatosis and renal cell cancer (HLRCC,) and hereditary papillary renal cell carcinoma. Can you tell us a little bit about these different conditions? What distinguishes one from the other? What are some features that you usually will keep in the back of your mind as you’re looking at family history, or maybe some features that you would like providers to think about as they’re getting intake information from patients about their family?

Ms. Saporito: That’s a great question because a lot of the syndromes either have various different features or have a really long list of features. I think in that way, it can be hard for people to think about, “Is it worth sending for genetics or not?” When we meet with patients, usually if it’s indicative of one particular syndrome, that’s kind of what we focus on with educating them. But if they’re coming in just because they’ve got an earlier-onset kidney cancer, then we might be talking more about which things we’re looking for, possible implications, and maybe examples of a couple of the syndromes to further explain how they might impact the patient.

At the top of the list, of course, is von Hippel-Lindau syndrome. That’s a renal syndrome that affects many areas of the body and causes a higher risk for cancers and tumors. Most of these are benign, so some patients may come in not thinking to share that because it’s not a cancer history when they come to MD Anderson, so we want to make sure to pull any of that information out if they’ve had any benign tumors. Usually we’re thinking of hemangioblastomas, pheochromocytomas, or paragangliomas. Then there’s also risk for cancers. Clear cell renal cell carcinoma is the one that comes to mind when we’re thinking about kidney cancer. Typically, when people come in, they have multiple of these features because they can be affected with multiple features starting as early as age 20. They might already have hemangioblastomas or other features that we’re thinking about, which would then guide us into looking at VHL more in-depth.

Next would be Birt-Hogg-Dubé, which is consistent with lung lesions as well as skin lesions and then renal tumors; typically, the renal tumors are different, so they’re not the most common, which is clear cell. We typically see chromophobe or hybrid oncocytic tumors as well as oncocytomas. Then the skin lesions are typically fibrofuliculomas or trichodyscomas. They might not also get brought to our attention from patients because they might not affect them very much. They’re usually small skin-colored little bumps on the face or the neck or the abdomen, so they tend to not be disruptive, especially initially. They might grow in size and number over time and be more painful, but it’s not something that a lot of patients, without being asked, will share when they’re being evaluated for a cancer syndrome. That’s something really important that we want to make sure to assess if they have been seen by dermatology.

Then with the lungs, most patients will also be affected with lung cysts, and then a much smaller proportion will have spontaneous pneumothorax or a lung collapse. Then the next one is hereditary leiomyomatosis and renal cell carcinoma syndrome, which is seen with papillary type 2, also a rarer type of histology. The main features are uterine leiomyomas, which are just uterine fibroids and then cutaneous leiomyomas. You can see in this type 1 too; they’ve got skin findings that might not be brought to our attention as well. These look a little bit different. They appear like large red patches on the skin. Then the key thing with the fibroids is that women who have these fibroids tend to have earlier-onset fibroids that are typically larger in size and more painful, which can lead to having hysterectomies earlier in life compared to an average woman.

The next one is hereditary papillary renal cell carcinoma, and the only thing that this is associated with is a type 1 papillary renal cell carcinoma. That itself is an indicator for a physician to refer because of the rare type of histology. Most of the time these are also bilateral and multifocal, which is also one of those red flags for hereditary cancer, and individuals might have hundreds of thousands of these small, microscopic tumors. This one’s interesting because there are no other features typically seen, none of those skin lesions or other tumors. It’s really just associated with the papillary kidney cancer.

We also talk about a few other syndromes like tuberous sclerosis because it’s associated with kidney cancer as well as renal angiomyolipomas. It’s much less often, but we still see individuals in clinic with Lynch syndrome, who come back positive for BAPI because it has been associated to have a higher risk for kidney cancer, hereditary paraganglioma, and pheochromocytoma syndrome, and then PTEN. But this is a group of syndromes that has several other features, and kidney cancer is lower on the spectrum there. When we meet with patients, we take a deep dive into the skin findings. Have they seen a dermatologist? Are they aware of any of these changes in their body? We talk about how some of these other features, if somebody comes back positive, might have a minor impact like skin lesions while others might be more problematic or disruptive, and what that can look like moving forward if they were to test positive for one of those.

Ms. Abdel-Salam: I think that’s a really, really great summary of the wide range of conditions that you’re constantly having to think about. I think it’s interesting in this space, among a couple of others, that you’re not just necessarily worried about the malignancies, but also rare benign tumors that can come up with these conditions. I like that you mentioned some of those skin findings as well. I’m curious, Donika, in general for a lot of these different conditions, we talk about that 5% to 10% range of being hereditary. In general, with these different kinds of cancers and tumors that you’re seeing patients have, do they usually fall within that range? Maybe a little bit less, a little bit more? Can you give us a picture of what the yield for pathogenic variants tends to look like with these conditions?

Ms. Saporito: Definitely. From my experience in our clinic, it does tend to be lower, I think, in terms of having a pathogenic variant, but I also think that correlates pretty well with what we know about hereditary kidney cancer. We say about 5% to 8% can be expected to be inherited compared to maybe higher yields for ovarian cancer or pheochromocytomas. I think that also is because many of the syndromes we counsel for and test for are very rare to begin with. VHL is probably one of the more common ones, expected to be about one in 30,000 individuals that might have a VHL mutation, but then the others have maybe just a few hundred or less than 1,000 families that have been identified with that mutation. I think that’s all that to say we’re testing a lot of people and many of them are coming back negative, so a lower yield, but we’re casting a wider net so that if there is a mutation out there present in one of these individuals, we can identify it and then better assist them.

Ms. Abdel-Salam: Definitely. Just going back a little bit, I know you talked about VHL, and I think we were all excited a couple of years ago to see that belzutifan was approved by the FDA for treating patients that have a pathogenic variant in VHL. I’m curious, since that approval in 2021, do you feel like the landscape for testing in VHL has changed at all in your personal experience, or not so much still?

Ms. Saporito: That’s a great question, and it’s super exciting. I’m grateful to have been able to work with Dr. Jonasch, who led the trial. He was paramount in the research and the ability to bring this access to patients. I think patients themselves have come in expressing a lot of hope and gratitude to potentially have a targeted therapy, and with MD Anderson being a center of excellence for VHL, people are really eager to come here and get treatment, so that’s been really, really great. In terms of testing, our approach remains more or less the same, but I think more individuals are being referred to genetics to rule out VHL. I think providers are just becoming more aware of VHL and the possibility that there could be a treatment implication now, making sure to inform their patients and send them to us. I think all in all, it’s been really beneficial, and the patients have been super excited about that.

Ms. Abdel-Salam: Just going off of that, I’m curious, have you noticed if there have been any changes in the guidelines as far as germline testing for VHL or changes in coverage for testing for VHL, now that belzutifan has been approved for treatment?

Ms. Saporito: That’s a great question. I haven’t really seen many changes yet. Hopefully that’s to come. I’d be curious, since you mentioned changes in guidelines, if that would be something that changes next just because it would kind of open the gate for us to be able to test more people if it’s found in the tumor versus just in the germline. Hopefully that’s something that they’re moving towards.

Ms. Abdel-Salam: Definitely. That’s the goal, especially since we’ve seen that with BRCA testing and really pushing for testing for pancreatic cancer and metastatic prostate cancers, if something similar might happen with VHL testing as well.

I know you mentioned earlier, Donika, as you were introducing yourself and telling us how you got into kidney cancer, that you’ve also dabbled in other specialty centers and have seen a wide variety of patients with different kinds of cancer conditions. Do you feel like there’s anything about specifically counseling for hereditary cancer predispositions that’s a little different compared to some of the more common hereditary cancer conditions like hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome, those things that we might more often see patients coming back positive for?

Ms. Saporito: In a lot of these cases when we have a positive mutation, we think about testing an individual’s children, which doesn’t always happen with a lot of the other hereditary cancer syndrome. A lot of the syndromes that we’re testing for can cause tumors or cancers in individuals that are in their 20s or even younger, as early as childhood, so that would be something that’s really important for us whenever we’re thinking about how to counsel patients who are usually themselves affected. We consider how they’re going to share that information with their at-risk children who might be at a more delicate age, just being mindful of what that looks like in their family.

Then the other thing, which is present in some other indications as well when we think about BRCA, is thinking about the autosomal recessive impact. With HLRCC, that does have another consideration when we think about autosomal inheritance of the FH genes. Those would be the biggest differences or things that we want to make sure to touch on when a family comes back positive that might be a little different than Lynch syndrome or HBOC.

Ms. Abdel-Salam: As we’re wrapping up, I’m curious, in your time seeing patients for hereditary renal cancer syndromes, are there any cases that have stuck out to you in particular?

Ms. Saporito: One case that I always think about is a patient who tested positive and then went out of their way to make sure that their sons, who are both adults and don’t live in Houston, made sure to come here to MD Anderson to get tested. Sometimes we don’t always get to see that play out. We don’t get to see patients after they leave. Their relatives might be getting testing locally or going through another avenue, but it was really nice to be able to help this individual understand what they’re getting tested for, talk to their children, and help coordinate testing. It becomes a rewarding part of your job because you’ve become that point of contact, that assistant for providing more integral information to an individual’s health and then going beyond that for their relatives. I think that circles back to what I was saying in the beginning about why I really wanted to be in this field—to be able to have that connection with patients. It’s really meaningful that we have that in some cases, because sometimes we don’t have the opportunity.

Another case comes to mind, more so from a team approach. I had a patient who was a 66-year-old male with metastatic renal cell carcinoma, and he’d had it since eight years prior. He’d had surgery, and then at the time of his surgery, his pathology report showed a loss of SDHB. Even the pathology report actually recommended testing on it, but he never pursued testing at that time and was being followed because of his metastatic disease for several years at MD Anderson. He had a normal chest, abdominal, and pelvic computed tomography (CT) right before meeting with us. He opted to pursue testing and came back positive with an SDHB mutation. I think that case comes to mind a lot because it was a total of eight years that he just didn’t have any testing done. It looked like he had been encouraged to have genetics several times, but of course, understandably, he had a lot of things going on and it kind of seemed like it was on the back burner. Kudos to his team for continuing to remind him that it’s something important and ultimately getting that helpful information for his family.

That’s a really important test for his family members, particularly his kids, to undergo testing for. Interestingly enough, SDHB is one of the syndromes I didn’t go into too much because it’s one of the genes that causes hereditary paraganglioma and pheochromocytoma syndrome, which are the two main things we think about. It’s not really top of radar when we think about kidney cancer, and he had none of the other features associated with that syndrome. It’s just something really neat that came together, and I think he was very glad that he ultimately had the testing and was able to provide that information to his family members.

Ms. Abdel-Salam: I think those are two really great examples of the full circle moment of having patient that comes back positive and actually getting to see it come to fruition, talking about cascade testing with their family, and having that conversation with them. I also love your second case and talking about how for some patients, that moment might not really be the right time for them to go through germline testing personally. They may have other priorities, but I’m really glad to hear those physicians were kind of setting those reminders for him, letting him know that this is still an important conversation that he has the option to have, and then also discovering that he had SDHB, which is not something that we would typically expect. It emphasizes that a lot of times with genetic testing, there can be incidental findings or even maybe results that we don’t typically anticipate coming back positive with panel testing. These conditions can present in ways that we don’t oftentimes see.

Well, Donika, thank you so much. I feel like this is a really great conversation to give us a quick picture on hereditary renal cell carcinoma syndromes. Thanks so much for giving us a sneak peek on what your conversations with patients look like. I appreciate your time.

Ms. Saporito: Thanks for including me. I’m so happy to be a part of this. I appreciate it, and I hope that it’s helpful in sharing the information for anybody who’s interested.

About Hiam Abdel-Salam and Donika Saporito

Hiam Abdel-Salam, MS, CGC, is a Certified Genetic Counselor in the Clinical Cancer Genetics Program at the University of Texas, MD Anderson Cancer Center. She provides cancer risk assessment and counseling for patients in the Breast, Genitourinary, and Pediatric/Adolescent/Young Adult Centers. Her research interests are in the identification of incidental hereditary cancer predispositions in multigene panel testing and communication of hereditary cancer syndromes within families. She has a particular research focus on exploring attitudes and communication about cancer and hereditary cancer risk among racial and ethnic minority populations and improving access to cancer genetic counseling among underserved patients.

Donika Saporito, MS, is a Certified Genetic Counselor in the Clinical Cancer Genetics Program at the University of Texas, MD Anderson Cancer Center. She provides cancer risk assessment and counseling to patients in the Genitourinary Center. Ms. Saporito is also involved in supervising and teaching students from the University of Texas Genetic Counseling Training Program.

Transcript edited for clarity. Any views expressed above are the speakers’ own and do not necessarily reflect those of Oncology Data Advisor.

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