9 mutated genes identified in leukemia patients
December 13th, 2011
01:05 PM ET

9 mutated genes identified in leukemia patients

Chronic lymphocytic leukemia, or CLL, is the most common form of leukemia found in adults in North America. Yet the disease remains poorly understood, according to authors of a new study published in the New England Journal of Medicine.

Dr. Catherine Wu, one of the study authors and an assistant professor at Harvard Medical School, said all CLL cells look the same under the microscope. Yet patients with the cancer can have different outcomes - some live for 5 to 15 years with little or no treatment, others succumb to the disease within two years.

This unpredictability is one of the reasons Wu and her colleagues are attempting to identify mutated genes in the tumors of CLL patients. For this study they collected DNA samples from the leukemia cells of 91 patients and compared the gene sequences, or DNA order, to normal cells.

The researchers reaffirmed two mutated genes that were already known to be involved in CLL, and confirmed two genes that had been suspected to be significant. Most importantly, they say they identified five new genes that were not known to have established roles in the disease. The most interesting, Wu said, was gene SF3B1.

The significance of SF3B1 is a bit tricky. SF3B1 plays a role in mRNA splicing. mRNA, or messenger RNA, carries instructions from DNA for making proteins. Splicing occurs when the mRNA is being prepared to produce the proteins that help your body function.

Mutations of the SF3B1 gene were found in 15% of the study's patients, the second most-frequently mutated gene. These mutations were found primarily in patients with a poor cancer prognosis.

This means that if the gene could be identified, we would know which patients might not respond in the long-term to conventional chemotherapy, Wu said.

"It gives us new targets to go after in order to treat CLL," she said. "It provides us tools to help us predict more reliably how patients will fare. We may want to consider alternate therapies or think about other ways to treat it more effectively."

soundoff (21 Responses)


    December 13, 2011 at 15:33 | Report abuse | Reply
  2. Penny

    My father was diagnosed with CLL and lived for five years. It is wonderful to read the news and findings with research on CLL.

    December 13, 2011 at 16:39 | Report abuse | Reply
    • Teresa

      My husband was diagnosed with CLL. He was only 48 at the time. Its been almost two years in Feb. We don't know what the future brings, but hopefully they will know more down the road. We know that it will shorten his lifespan. To live with uncertainty is hard to deal with sometimes as we are still trying to raise our two boys. We pray each day for a cure.

      December 14, 2011 at 01:42 | Report abuse |
  3. wendy5

    mayo clinic reported a possible vaccine for breast cancer today; it works in mice they have the same carbohydrate stucture; i read about john bitner and his cat mouse theroy on b cancer; interesting and incouraging for people

    December 13, 2011 at 17:31 | Report abuse | Reply
  4. Goodguy1

    My mother was diagnosed with CLL. she lived for 3 years and died at MD Anderson in Houston, the worlds largest cancer hospital. The name plates are tacked all over doors of the victims of this disease. My mom died a hard death when I was 15-years-old. I am still haunted by this some 25+ years later. The children with cancer at MD Anderson live on the lower floors, and you have to walk through the kids floors to visit people on the upper floors. This is an ass kicking experience. I cried every time I entered and left the hospital. I cried for my mom. I also cried for the little ones....little bald kids fighting for life when they should be playing with toys and dreaming of their futures. One thing that always bothered me about MD Anderson; they don't let the kids out enough in the sunlight and to play. They need this...it is soul refreshing and good for the physical well being. Buy some property MD Anderson and let the kids play all day outside. You will notice results I believe.

    December 13, 2011 at 18:37 | Report abuse | Reply
    • Agent99

      I am sorry for your pain and the loss of your mom.

      I agree with you about letting the children with cancer outside for fresh air and sunshine. It is soul refreshing and therefore would have a healing effect on that child's body, mind, and spirit – no matter what the outcome of their health status turns out to be. Improving the quality of their life by bringing them joyfulness WHILE they are alive is just as important as the medicine they receive (sometimes more so).

      December 13, 2011 at 20:15 | Report abuse |
    • Visited

      I have visited children at MD Anderson, and I do agree that sunshine would be nice. However, most (if not all) cancer patients are immunocompromised to some degree, either as a result of their illness or as a side-effect of their treatment. Sunshine, fresh air, birds chirping... it's a lovely thought, but these patients can't be exposed to everything that comes along with those wonderful things. Mold, dust, pollen, bacteria, viruses, dirt, etc... there are millions of tiny things outside the hospital walls that can have life-threatening implications, and the risk is not worth the reward. It's a horrible thing to know that these children (and adults) are prisoners, but the cancer is their jail, not their physicians. Doctors are humans too who I'm sure would love to make their patients happy during such dark times, but the harsh reality of the disease keeps them from allowing such creature comforts that we often take for granted.

      December 14, 2011 at 09:26 | Report abuse |
    • CheeseHead in Texas

      My mom passed away from the more aggressive type of leukemia – AML – in 1990. Many of the medications she was given caused sensitivity to sunlight, meaning she could burn very easily if exposed to sunlight. Maybe this is a factor?

      December 14, 2011 at 13:35 | Report abuse |
  5. Barb

    Dr. Wu – great work ! Best of luck to you and other researchers in understanding this type of leukemia.

    December 13, 2011 at 23:32 | Report abuse | Reply
  6. Floyd's Daughter

    Thank you Dr, Wu – Dad lost his battle with CLL 24 1/2 years ago. He always said that someone would come along after he was gone to figure out this disease. Congratulations to you and your team of researchers.

    December 14, 2011 at 10:17 | Report abuse | Reply
  7. Michael

    This is great news. As someone with CLL, I hope that a cure is on the horizon.

    December 14, 2011 at 17:04 | Report abuse | Reply
  8. VICKI

    This is great news, Thank you Dr. Wu. As someone with both CLL and IVD breast cancer I am praying for all of us cancer patients for a cure.

    December 21, 2011 at 11:57 | Report abuse | Reply
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    February 17, 2012 at 00:20 | Report abuse | Reply
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