Accident led to cancer treatment for 'Philadelphia chromosome' | Philadelphia Inquirer | 09/29/2010

Posted on Wed, Sep. 29, 2010
Accident led to cancer treatment for 'Philadelphia chromosome'
By Faye Flam

Inquirer Staff Writer

In 2005, Ryan Corbi was a senior at Villanova, pondering whether to pursue a career in medicine or theology when his doctor told him she suspected he had leukemia.

He felt fine, but some routine blood work looked suspicious. He soon found himself at Fox Chase Cancer Center, where doctors took a sample of his bone marrow and tested it for something he'd never heard of at the time - the Philadelphia chromosome.

Now he's intimately familiar with this bit of errant genetic material that triggers his particular form of the disease - chronic myeloid leukemia (CML). Tuesday, at a symposium devoted to the 50th anniversary of the discovery of the Philadelphia chromosome, the tall, healthy-looking 27-year-old said he owed his life to a decades-long scientific odyssey that began here in 1958.

It started with a mistake. University of Pennsylvania pathologist Peter Nowell accidentally used tap water rather than a special solution to rinse some slides coated with leukemia cells.

Nowell could have thrown the slides away, but he saw something curious and decided to look further, teaming up with a Fox Chase graduate student. That led to a 1960 paper that changed the direction of cancer research and led decades later to a drug that Corbi credits with his survival.

Corbi said that once the doctors found the Philadelphia chromosome in some of his cells, they told him it was good news and bad news. Unfortunately, he had leukemia, but it could be treated with a new drug, part of a new class that selectively disables cancer cells while sparing normal ones.

At the symposium, held all day Tuesday at the Chemical Heritage Foundation in Center City, Corbi said he had never felt a single side effect - never lost his hair or had to worry about his fertility. The only thing that has changed is he takes one pill a day.

At first, he said, doctors were unsure if he should have a bone-marrow transplant and undergo chemotherapy before getting the new drug. But he and his doctors opted to skip the traditional treatments.

He has earned a master's degree in theology and is hoping to teach.

Former Los Angeles Lakers basketball star Kareem Abdul-Jabbar also has the Philadelphia chromosome. Although he could not be at the symposium, he sent a letter expressing his gratitude toward all the researchers whose devotion led to the drug that is keeping him healthy despite having CML.

Nowell, 82, told the crowd of several hundred that washing his slides in tap water caused the chromosomes in the cells to swell and take shape. Most of the time, chromosomes spread out and overlap, like spaghetti.

Nowell said he didn't know much about chromosomes - it was only two years earlier that biologists had figured out that humans have 46 of them. But it seemed a shame to throw these slides away, he said. Something might be learned from them.

"Someone mentioned there was this fellow named David Hungerford over at Fox Chase Cancer Center who was trying to do a Ph.D. in chromosomes," Nowell said.

The two teamed up, and Hungerford noticed that the leukemia cells carried an extra chromosome - a tiny, stunted-looking one.

Hungerford's observation was even more impressive considering the state of equipment he used, said Jeff Boyd, executive director of Fox Chase's Institute of Personalized Medicine. "He made a seminal discovery using a microscope you could probably buy at Toys R Us today."

Nowell and Hungerford studied more cells until they had made a case that this stunted chromosome was associated with malignant cells in patients diagnosed with CML.

They published their findings in 1960, when it was traditional for such findings to take on the name of the city where they were discovered.

"It was a decisive moment," said Fox Chase cancer researcher Alfred Knudson, 88, who attended the symposium. He said the finding had a powerful influence on the direction he took in his career.

Back in 1960, some thought cancer might be caused by radiation. Others thought it was viral, Knudson said. Nowell and Hungerford showed that in one type of cancer, at least, a genetic abnormality cropped up in the malignant cells.

Knudson went on to show how inherited genetic mutations could conspire with subsequent DNA damage to cause cancer.

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Accident led to cancer treatment for 'Philadelphia chromosome' | Philadelphia Inquirer | 09/29/2010