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Promise and Progress - Research Becoming Reality

Leading the Way Fall 2009 Winter 2010

Research Becoming Reality

By: Valerie Mehl
Date: December 1, 2009

IMAGINE DETECTING CANCER with a simple blood test.

Ivelisse Page, a young and vibrant wife and mother of four young children and colon cancer survivor, can.

Despite having regular colonoscopies, her colon cancer went undetected. Her journey begins long before her diagnosis. Her grandmother and father both died of colon cancer when they were in their late thirties. She knew family history put her at higher risk of developing the disease at a young age and she was diligent about getting regular colonoscopies. She developed colon cancer more than a year before she was due for her next colonoscopy.

Now, Page is part of a clinical trial to study a simple blood test, developed by Vogelstein, Velculescu and team and taken to the clinic by physicianscientist Luis Diaz. It is based on the unique genetic fingerprint contained within the genome of every cancer. The investigators believe the test could have uncovered Page’s cancer in its earliest stage.

Every cancer has a set of mutated genes that are present in cancer cells, but not in normal cells. Using next generation sequencing technology to reveal these genes opens the door to new clinical possibilities. “Just as DNA has been used to detect, measure, and manage
chronic viral infections, like HIV, measuring circulating tumor DNA could similarly enhance the management of cancer,” says Diaz.

As the discoveries of Vogelstein and team have revealed, virtually all cancers arise through the mutation of genes that control cell growth. As the cancer grows, they shed tiny fragments of DNA, biological evidence of the mutant genes, into the blood stream. It can
pinpoint and track a cancer before a tumor develops and begins to cause symptoms and long before the cancer is visible on X-rays and CT scans.

The test could help physicians detect new cancers in the earliest stage and also determine patients who may have cancer cells remaining after surgery and who could benefit from additional therapy. “We know that not all patients need intensive adjuvant therapy, and
this test could help us decide who would benefit and who could be spared the additional treatment,” says Diaz. The blood test could also alert doctors to early signs that a treated cancer has come back.

Page knows all too well the urgency of this research. Time is both friend and enemy to cancer patients. Upon diagnosis, the unsettling awareness of an uncertain future makes them wish time could stand still. And yet time cannot move swiftly enough as they await the delivery of promising research discoveries to patient care.

Page will not benefit from the new test, but she is participating in the research study in hopes that what scientists learn from her will help future patients.

Five weeks after surgery to remove her colon cancer, a CT scan revealed that the cancer had spread to her liver. The good news about a place like the Kimmel Cancer Center is that, at once, our experts are delivering the most advanced cancer therapies available today and working to develop even better treatments for the future. Surgeons were able to remove the tumors in her liver, and for now Page remains cancer free.

“How great would it have been if this test had been available and caught my cancer earlier,” says Page. “Even if this research doesn’t help me, maybe it will help my children or another patient. We all need to work together to cure cancer. If I can spare another
family from going through what my family has gone through, it will be worthwhile.”