Sep 5, 2014 — Cancer is generally thought of as an acquired disease resulting from an accumulation of genetic mutations that causes things to go terribly wrong. Huntsman Cancer investigator and University of Utah professor of oncology, Joshua Schiffman, M.D., is on a mission to let physicians and patients know that in the case of childhood cancers, there is a good chance that some are inherited. Knowing this information can make a big difference in patient care and in preventing cancer in family members.

Interview

Announcer: Examining the latest research and telling you about the latest breakthroughs, on the The Science and Research Show is on The Scope.

Interviewer: My guest pediatric oncologist, Dr. Joshua Schiffman, is on a mission to let physicians and patients know that in the case of childhood cancers there is a good chance that some are inherited. Knowing this information can make a big difference in patient care and even in preventing cancer in family members.
Dr. Schiffman, what prompted you to look at the inheritance of cancer?

Dr. Schiffman: When a new child is diagnosed in the middle of the night, the parents typically ask three questions. The first question that they want to know always is, will my child live or will my child die? Now fortunately in pediatric cancer we cure 80% or more. So we can reassure the patients, yes, yes, your child has a great chance of survival based on all the great stuff that we're doing as the Department of Pediatrics and Primary Children's Hospital and around the country.
Now the next question that often comes up is why did my child get cancer, and that's something that we're studying in our laboratory here at the University of Utah, trying to answer that question. For now what we tell the families is, well we don't quite know. It's probably a combination of environment and genetics, but we're working on it.
But the third question that always, always comes up is are my other children also at risk for cancer. This is an especially important question in Utah, where families have five, six, seven, sometimes as many as ten children.

Interviewer: Right.

Dr. Schiffman: And in the past the only answer that we had for this question, which is asked at every new diagnosis, was we don't think so. We think probably not, this was just random chance. But we don't know for sure.

Interviewer: You did a study looking at the families of children with cancer. What did you find?

Dr. Schiffman: This was a fascinating study. We were able to use the Utah Population Database to look back to 1966 to determine how many cases of childhood cancers there were in Utah, and of those cases where we were able to have a family history, which was approximately 4,482; how many of those children also had other family members with cancer.
We were able to show that yes indeed, if you are a child diagnosed with cancer, that you have a two to four-fold risk of having another first degree relative, often a sibling, with childhood cancer. Now there's a very important caveat here, which was that increased risk was only found in those families that already had an increased history of cancer.

Interviewer: And what could knowing that information mean for family members?

Dr. Schiffman: Based on this study, we can now say that in order to answer the question, are your other children at risk, what is your family history of cancer. And if they say, we have no family history of cancer, and then we can confidently say, based on our study, that we don't think your other children are at increased risk for cancer. It's the same as the population.
However, if they tell us, well actually yes there is a strong family history in our family of cancer, and then we could say, well, we know now that your other children are at a two to four-fold increased risk of cancer.

Interviewer: And what is the difference between an inherited cancer and an acquired cancer?

Dr. Schiffman: We often talk about the two-head hypothesis in cancer.

Interviewer: Right.

Dr. Schiffman: In the normal, health population like you or I, it often takes a lot of time and it's really a chance phenomenon that you would randomly get two mutations in the same gene that go on to develop that actual cancer.
In children in families with inherited cancer syndrome, they are already set up with their first hit. They are already far down the runway of cancer development. They just need their second hit, and once they get that second hit that's when they develop the cancer.

Interviewer: If you knew that one of the children you were seeing had an inherited cancer, how would that change how you treat the patient?

Dr. Schiffman: That's an excellent question. One of the things we know is that in terms of inherited cancer that in many of the children with these syndromes their cells do not repair DNA the way that normal cells do. That may translate into an increased risk of secondary cancers. So when choosing the therapy for a patient who has an inherited cancer syndrome, we take into consideration the risk that they could develop additional cancers if we don't choose the right therapy.

Interviewer: And so an inherited cancer would probably mean that you'll get it earlier in life?

Dr. Schiffman: That is correct.

Interviewer: And have you had cases where knowing whether a cancer is inherited within a family has made a difference for them?

Dr. Schiffman: Absolutely. We are now able to initiate at the University of Utah whole body MRI screening. We are able to screen patients at inherited risk for cancer who don't have any symptoms from head to toe in a single procedure in less than an hour and we have countless examples where we have found cancer before the patient even knew they were sick; before they had a single symptom.
Now imagine that; this completely shifts the paradigm of cancer. If we can identify who is at risk, then we can screen cancer, find it at an earlier stage and make a difference. We have found brain tumors. We have found lung tumors. We have found kidney tumors. We have found carotid body tumors. We have found pheochromocytoma in the adrenal glands. The list goes on and on. By knowing that a patient is at increased risk, we can improve survival and decrease morbidity.

Interviewer: Do oncologists normally take family histories of cancer patients?

Dr. Schiffman: Unfortunately the world of clinical oncology is a very busy place. There are many time constraints, there are many patients; there are insurance companies to talk to. There are pharmaceutical companies to talk to, there are clinical trials. There is so much going on that unfortunately family history often gets lost in the shuffle.
So we are working with other colleagues across the country to try to figure out a way to implement an easier and more fascicle way to collect family history and get that information to the clinician and also help the clinical oncologist to interpret that data to better understand if their patient should be referred for further genetic testing and evaluation by genetic counselors, and clinical oncologists with an interest in cancer genetics.

Interviewer: And what would your recommendation be for the cancer patients?

Dr. Schiffman: For cancer patients I would recommend that they sit down with their other family members and that they take a very careful family history; that they try to figure out what diseases run in their family, have there been other cancers that have occurred to figure out if they were, for instance, bone cancer. Was it truly a bone sarcoma, or was it another tumor, like a breast cancer, that had spread to the bone.
All of this information helps us in the world of cancer genetics along with the genetic counselors, who are by the way indispensable to this effort, to try to determine what the genetic risks are for disease in this patient. Once they've collected their family history, I would recommend that they talk with either their primary care oncologist, or to even their family medicine doctor, or general internist, or general pediatrician. Share that family history to see if there is a risk for inherited cancer syndrome in the family.

Announcer: Interesting, informative, and all in the name of better health. This is The Scope Health Sciences Radio.