Faculty Spotlight: Fay Kastrinos, MD – Gastroenterologist

This faculty spotlight introduces Dr. Fay Kastrinos, a gastroenterologist with special expertise in researching and treating patients with inherited cancer syndromes. A faculty member of the Division of Digestive and Liver Diseases at NewYork-Presbyterian/Columbia, Dr. Kastrinos has treated patients at the Pancreas Center since 2008. She now oversees the clinical practice for the Muzzi Mirza Pancreatic Cancer Prevention and Genetics Program, where she sees patients every Friday.

What is your role at the Pancreas Center and the Muzzi Mirza Program?

Dr. Kastrinos: My role is to help patients assess their risk for pancreatic cancer based on their personal and family history. This is a very important part of patients’ care at the Pancreas Center as it may ultimately translate to preventive measures for those patients and family members who may be high risk for pancreatic cancer.

How do you assess patients’ risk?

Dr. Kastrinos: Working together with our certified genetic counselor, our first step is to take a detailed, three-generation family history in order to try to identify whether other family members have had pancreatic or other cancers. A number of inherited cancer syndromes include pancreatic cancer as part of a constellation of cancers. One example is breast-ovarian cancer syndrome; a family history of this syndrome, which is associated with the BRCA gene, increases one’s risk of pancreatic cancer in addition to the more common cancers encountered with this syndrome. So we look for any cancer syndromes that are known to increase the risk of pancreatic cancer.

How strong a factor is family history of pancreatic cancer?

Dr. Kastrinos: Of all patients with pancreatic cancer, about 10% have some known history of cancer in their families. About 3% have a family history consistent with an known inherited cancer syndrome that includes pancreatic cancer such as breast cancer, melanoma, or colorectal cancer syndromes such as Lynch syndrome, FAMMM, or Peutz Jehger’s syndrome. These conditions have a known gene mutation that is responsible for causing cancer, and genetic testing can be offered to patients and their at-risk family members. The other 7% of pancreatic cancer patients report a family history where there are multiple relatives with pancreatic cancer and there are no other inherited cancer syndromes suspected. Families with two or more relatives with pancreatic cancer from the same side of the family and in close relation to one another are referred to as Familial Pancreatic Cancer kindreds. At this time, no prevalent gene mutation has been identified in cases of Familial Pancreatic Cancer. See more about the genetics of pancreatic cancer.

If a person has a family history of pancreatic cancer, what are you able to offer as far as screening and evaluation?

Dr. Kastrinos: If there is a family or personal history suggestive of an inherited cancer syndrome associated with pancreatic cancer, we can offer genetic testing. If a patient is found to have a gene abnormality, recommendations are made regarding cancer prevention strategies and genetic testing can also be offered to other family members who may also be at-risk. The known cancer syndromes associated with pancreatic cancer are inherited from one generation to the next, so many times patients will have children or siblings that may also benefit from genetic testing, in addition to more distant relatives. All of our patients who are seen for genetic evaluation due to the risk pancreatic cancer are asked to participate in the Center’s Pancreatic Cancer Family Registry. This provides research opportunities related to novel gene discovery as well. There are research studies underway to determine ways to best screen for pancreatic cancer in patients at high risk for this disease, and they include MRI or endoscopic ultrasound to check for precursor lesions in the pancreas.

What criteria do you follow when determining who should receive imaging by MRI or ultrasound?

Dr. Kastrinos: At this time, screening criteria for pancreatic cancer are not well established and are still under investigation. Studies have evaluated these modes of imaging in patients who are identified as high risk because they carry known gene mutations or have a strong family history. The consideration is to perform either of these examinations regularly in order to detect precursor lesions. If any lesions are detected, endoscopic ultrasound is necessary as it also provides the ability to biopsy the pancreas. We are developing a protocol to use special endoscopic techniques to obtain higher quality tissue samples during endoscopic ultrasound, which can be used both for diagnosis as well as for research purposes.

What is on the horizon for the diagnosis of pancreatic cancer?

Dr. Kastrinos: Efforts related to gene discovery are focused on using gene sequencing technology. Much research is being done to try to identify why pancreatic cancer develops in certain patients and not others. We are working hard to identify gene mutations associated with pancreatic cancer, particularly among those that have a strong family history so that we can better assess patients’ risk as well as that of other family members. If specific genes are isolated and the results are validated, that would allow us to offer predictive genetic testing, which would significantly improve the identification of gene mutation carriers who would benefit from early detection and prevention of pancreatic cancer.

How are you working toward this goal?

Dr. Kastrinos: This is a very collaborative effort among doctors seeing patients and scientists in the laboratory. First, we are identifying the right patients and families for DNA analysis and gene sequencing from our High Risk Family Registry. Dr. Wendy Chung will perform full gene sequencing doing DNA analyses (using blood and saliva samples) to identify candidate genes and once a broad pool of candidate genes is identified, then Ken Olive’s Laboratory will do molecular tissue testing of correlating tumors obtained by endoscopic biopsy or during surgery. See more about current research at the Muzzi Mirza Cancer and Genetics Program.

Do you expect genetic discovery in pancreatic and colon cancer to catch up to the level of progress we have seen in breast cancer?

Dr. Kastrinos: Genetic discovery in pancreatic cancer has lagged behind that in breast and colon cancer. Efforts related to gene discovery have in the past been more time consuming and tedious, such as using gene linkage studies, which entailed obtaining samples from multiple family members, and analyzing and comparing their DNA. Unfortunately, survival in pancreatic cancer patients and the lack of tissue samples often limited much research too. DNA sequencing has evolved considerably, however. With our strong patient registry and our ability to obtain more tissue samples whenever possible, in addition to more recent high throughput DNA technology, we are excited to now perform such testing much faster than was possible a decade ago. With our efforts in also improving survival in patients with pancreatic cancer, more can be done in pancreatic cancer and genetics research than was possible even a few years ago and we anticipate that this will be done at a faster pace than what was possible before. We anticipate that the gap between genetics research in breast and colon versus pancreatic cancer will only diminish in the next few years.

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