Advanced Genetic Testing of Woman’s Tumor Finds Unexpected Cancer Cells, Changes Treatment Options

Advanced genetic testing is an area of oncology that has been underdeveloped, until now. “In recent years there has been an explosion of academic medical centers and companies interested in the idea of finding out what‘s driving each person’s individual cancer," says Dr. Michael Pishvaian of MedStar Georgetown University Hospital.

July 17, 2014

Colon Cancer Expresses Gene Mutation Often Found in Breast Cancer

(Washington, D.C.) – When registered yoga teacher and intensive care nurse Jenn Morey of Maryland learned she had stage 4 colon cancer at age 36 in June 2013, the diagnosis turned her world upside down.

“I had no family history of colon cancer and I’m relatively young, so my diagnosis came as a total shock,” said Jenn, who sought medical care after six months of worsening constipation, indigestion and lower back pain.

After chemotherapy and surgery to remove a large colon tumor, then more chemotherapy combined with internal radiation, her cancer continued to grow in places like her lungs and liver. And she was worn out.

“My quality of life was suffering,” said Jenn. “I couldn’t do the things that make me healthy and happy.”

Jenn Morey with her MedStar Georgetown oncology nurse after one of her treatments.

At about that time, in the spring of 2014, Jenn’s GI cancer specialist at MedStar Georgetown University Hospital decided to follow a hunch. Utilizing the advanced resources available through the hospital's Georgetown Lombardi Comprehensive Cancer Center, Michael Pishvaian, M.D., Ph.D., sent her tumor cells to a lab for advanced genetic testing. “I pursued the genetic testing because I knew there had to be something more driving her cancer; something that was out of the norm. I felt that I could do more for her.”

What the testing showed was intriguing.

“Jenn’s colon cancer cells were over expressing a protein called human epidermal growth factor receptor 2 or Her2/neu because of a gene amplification we see mostly in breast cancer and some stomach cancers,” said Dr. Pishvaian. “We only find this gene amplified in about three percent of people with colon cancer. This news changed everything for her.”

“To quote Dr. Pishvaian, my cells were ‘screaming’ Her2/neu,” said Jenn. If a score of 2 or 3 is considered positive, mine was a 9.”

Jenn immediately stopped the chemotherapy she was receiving for colon cancer and began a treatment mostly given to breast cancer patients called Herceptin (Trastuzumab) along with a chemotherapy called 5 Fluorouracil (5FU).

After three cycles of the new treatment, a CT scan on July 7, 2014 showed that her cancer was holding steady.

Jenn (center) on a Caribbean vacation with friends, Summer 2014.

“This was wonderful news. Because of the information I got from the advanced genetic testing I’m getting more targeted therapy for my particular cancer. If Dr. Pishvaian hadn’t sent off my tumor cells I’d still be on this traditional chemo which I couldn’t tolerate and I was running out of options. Now I have more choices for treatments that target my specific type of cancer.”

“Advanced genetic profiling opened up a whole new medicine cabinet for her, so to speak,” said Dr. Pishvaian. “I was very excited when I saw her results because I knew this information now gave us more treatment options for her. Jenn’s case is a clear example of why we do this testing. It’s like finding the needle in the haystack.”

After her cancer diagnosis, Jenn took a training specifically to become certified to teach yoga4cancer. She teaches at the Wellness House of Annapolis, a wellness center for those touched by cancer.

“Quality of life is huge to me,” said Jenn. “My yoga practice helps me stay centered; it helps me ride the ups and downs of cancer. In that same vein, the advanced genetic testing has really made a difference. It’s opened up treatment options that I hope will extend my life and have already improved my quality of life.”

Dr. Pishvaian says advanced genetic testing is an area of oncology that has been underdeveloped, until now. “In recent years there has been an explosion of academic medical centers and companies interested in the idea of finding out what‘s driving each person’s individual cancer. And while much of the focus has been on gene mutations, we can also test for abnormalities in RNA, proteins and phosphoproteins. Down the road there will be even more ways to figure out what, on the molecular level, is driving each person’s cancer. Then we can select our treatments more precisely.”

Dr. Pishvaian says this kind of genetic testing is used in many other cancers, like lung cancer, melanoma and breast cancer, but warns against using it for all patients with cancer.

“We’re hesitant to perform this testing in cancer cases when we are dealing with something that’s highly curable with standard therapy. But in more advanced cases in which there is no cure, advanced genetic testing might just reveal actionable molecular abnormalities that provide us with additional treatment options. In Jenn’s case that’s precisely what happened.”

Based on experience testing a limited number of patients, Georgetown Lombardi has plans to perform similar advanced genetic testing for all patients with advanced gastrointestinal cancers.

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