Elizabeth Demicco, MD, PhD: Hello, my name is Elizabeth Demicco. I'm an associate professor of pathology at the University of Toronto and staff pathologist at Mount Sinai Hospital. My area of expertise is sarcoma pathology.
Aaron Tallent, Interviewer: How can next-generation sequencing be beneficial in sarcoma?
Dr. Demicco: Well, we use it in our lab mostly for diagnosis and for research. For diagnosis, we use next-generation sequencing to determine different fusion types of fusion variants in sarcomas. Many sarcomas have specific diagnostic gene fusions, and so next-generation sequencing is a way to test for multiple these fusions at the same time, so we don't have to do different levels of FISH or other techniques to find the same fusions. It's very helpful in diagnosis that way for a certain subset of tumors. It's very useful for research, mainly in order to understand better sarcomas, but on the genomic landscape and for clinical trial research, as well, sequencing can be beneficial, for clinical trials [inaudible 00:01:08].
Tallent: In your opinion, is it practical for next-generation sequencing to be conducted in all sarcoma patients at the time of diagnosis?
Dr. Demicco: In my opinion, no, it is not practical for next-generation sequencing to be conducted in all sarcoma patients at the time of diagnosis. The vast majority of patients do not have molecular alterations that are helpful in either diagnosis or treatment. It costs a lot of money to do many of these tests with very little benefit to patients.
Tallent: You participated in a debate on this issue at the recent CTOS meeting. What was the outcome?
Dr. Demicco: Yes, I did participate in the debate. I was on the anti-side, and I did manage to sway a significant portion of the audience's opinions we pulled before the debate. The audience was mainly for sequencing at the time of diagnosis and after the debate, after they heard my speech, more of the audience was in favor of not sequencing at the time of diagnosis based on the arguments presented.
Tallent: What basic or translational research did you find most significant at the meeting?
Dr. Demicco: One of the main things we're interested in these days is how epigenetics alters sarcomas and their behavior, so one of the things I found most significant at the meeting was some of the basic science presentations on how arterial maintenance affects sarcomas and chromatin remodeling as a result of ATRX deficiency in sarcomas, because that affects how genes are transcribed and therefore affects their behavior in ways that we don't understand based solely on their genomics and sequencing data.
Tallent: Is there any research in sarcoma outside of CTOS that you are monitoring?
Dr. Demicco: Well, I'm actively involved in the Clinical Proteomic Tumor Analysis Consortium analysis of sarcomas. They've previously done proteomics analysis on a variety of carcinomas and sarcoma is the next batch of tumors that are going to be analyzed. I think that understanding the proteomics, what is actually being expressed in a cell when, will give us a better understanding of how these tumors are acting, what pathways are really, truly functioning in these tumors.
