Gene Studies Reveal Cancer's Secrets

Key alterations hold clues to blood, bladder and ovarian malignancies, researchers say

By Steven Reinberg
HealthDay Reporter

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TUESDAY, April 21 (HealthDay News) -- A close look at a tumor's or patient's genetics can provide important, potentially lifesaving clues to preventing and treating cancer.

So say scientists who outlined their research Tuesday in five presentations at the American Association for Cancer Research's annual meeting, in Denver.

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"This is an interesting set of presentations," John S. Witte, a professor in the Institute for Human Genetics at the University of California, San Francisco, said during a midday press conference. "All the studies have an impact on the potential to predict risk or recurrence or response to treatment," he said.

In the first study, researchers led by Dr. Charles Mullighan, an assistant member at St. Jude Children's Research Hospital, Memphis, found that children with acute lymphoblastic leukemia (ALL) who have mutations in the JAK tyrosine kinase gene generally have poor outcomes, including a higher risk of recurrence of their cancer. The finding suggests the gene could be a potential diagnostic tool and a new therapeutic target.

Despite improvements in treatment, some children with ALL will relapse, Mullighan told reporters.

For the study, the Memphis team analyzed the genes of 221 children with the disease.

Although JAK mutations were not previously known to occur in children with ALL, they were discovered in 10 percent of these patients. The mutations were associated with a deletion of the genes IKZF1 and CDKN2A/B and poor outcome. And, over four years, 71 percent of the children with JAK and IKZF1 alterations had a relapse of their disease, compared with only 23 percent for patients without these genetic alterations, the researchers found.

But there was good news, too. "When we treated the cancer cells with a JAK inhibitor, the cells died," Mullighan said. "This suggests that these JAC mutations are a new therapeutic target in this subtype of leukemia."

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