June 20, 2011

Gene Mutation Linked to Leukemia

(Ivanhoe Newswire) -- A new study reveals a single mutation, known as BRAF V600E, occurred in every patient in a group with hairy cell leukemia, suggesting this mutation could have implications for treating the disease.

According to the National Cancer Institute, hairy cell leukemia (HCL) is a cancer of the blood and bone marrow. It is a rare type of leukemia that slowly worsens or does not change at all. The disease is called "hairy" cell leukemia because the leukemia cells look "hairy" when viewed under a microscope.

The researchers found the BRAF V600E mutation appeared in 47 consecutive patients with HCL compared to zero of the 195 patients with other types of leukemias and lymphomas.

In-vitro studies showed that incubation of BRAF-mutated primary hairy cell leukemia cells with a specific inhibitor of BRAF let to a decrease in levels of phosphorylated ERK and MEK -- two known downstream targets of BRAF kinase.

"The BRAF V600E mutation was present in all patients with HCL who were evaluated. This finding may have implications for the pathogenesis, diagnosis, and targeted therapy of HCL," the study authors concluded.

SOURCE: New England Journal of Medicine, June 2011