Targeting a Tough Cancer Using Precision Medicine

Posted on Sep 19, 2016

Wobbling around the house or squealing with glee over his favorite cartoon, 2-year-old Anthony had plenty of toddler energy—but suddenly it disappeared. At first his doctor was not concerned. Then one day Anthony woke up gasping for air.Anthony with Dr. Hale

Nikki, Anthony’s mom, rushed her son to the emergency room at Johns Hopkins All Children’s Hospital, where tests revealed a mass in the chest that was blocking Anthony’s airway.  The tumor was surgically removed and diagnosed as stage-4, high-risk neuroblastoma, a childhood cancer that begins in early nerve cells and is often found in the chest or abdomen.

Anthony was treated with chemotherapy, but a year later he relapsed. This time, the cancer was in his lungs. Even more devastating, a search for potential new drug targets revealed that Anthony’s tumor cells had a rare mutation called anaplastic lymphoma kinase (ALK) that results in uncontrolled cell growth. It is often chemotherapy-resistant.

There was also reason for hope. The ALK mutation can be targeted with a relatively new medication, part of a new approach called precision medicine that can match the treatment more closely to the genes being expressed by a patient’s tumor. The opportunity for Anthony to join a drug trial to optimize his treatment is one of the benefits of being a patient at the Johns Hopkins All Children’s Cancer & Blood Disorders Institute.

“Anthony is an energetic youngster who has been thriving in the face of adversity,” explains Gregory Hale, M.D., a pediatric oncologist at Johns Hopkins All Children’s Hospital and professor of oncology with the Johns Hopkins University School of Medicine. “His disease did not respond well to relapse therapy and he was then treated with crizotinib—a targeted therapy that inhibits ALK—along with cyclophosphamide and topotecan, two chemotherapy drugs that are frequently used to treat cancer.”  Anthony responded well.

“Anthony’s treatment is an example of precision medicine where crizotinib was added solely because his tumor included this ALK mutation,” says Hale. “He continues to have a very low level of measurable disease. Hopefully we can omit or reduce chemotherapy to patients like Anthony in the future once we better define the cellular abnormalities in cancer cells.”

An Education for Parents

“As a parent I have learned more than I could ever want to know about cancer, specifically neuroblastoma,” says Nikki. “From the way drugs work and the way they are metabolized, to how to hook Anthony up to fluids and medications. You have to learn how to give shots, how to balance life differently and most of all how to keep things as normal as possible for him. Things I never dreamed of doing, I now know how to do.”

Having a supportive medical team has made all the difference in caring for her son.

“Our doctors, including Dr. Hale, make sure you fully comprehend everything and go that extra step to make sure you’re completely comfortable in every scenario. The nurses are like a second family to us, they are always there. In the clinic, on the cancer floor (7 South), even in radiology our nurses accommodate all of Anthony's quirky requests. They make him feel special and help when he is stubborn. It takes special people to deal with kids like Anthony, who have been through more than most adults. I can't express enough how great all of the nurses have been with him. When you are going through cancer a hospital becomes your second home, and I'm happy we chose Johns Hopkins All Children’s to be ours.”

A New Frontier

“Neuroblastoma is one of the greatest challenges we see as pediatric oncologists and so the next frontier where we can make advances is targeted therapy,” says Peter Shaw, M.D., deputy director of the Johns Hopkins All Children’s Cancer & Blood Disorders Institute. “The ideal cancer treatment would be a targeted drug that just goes after the unique mutation in—or a protein marker on—an individual person’s cancer cells while having minimal if any effects on healthy cells. This approach is the ultimate in precision medicine as even tumors that look identical under the microscope rarely respond the same to standard chemotherapy.”

Precision medicine is an important component of pediatric cancer care now and in the future, and the institute is establishing a phase 1 experimental therapeutics program so that more cutting-edge treatments like ALK-mutation targeting are available to patients right here in the Tampa Bay area.

Personalized treatments like this are at the forefront of care for kids like Anthony, whose gleeful laughter is reason for hope.

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