Articles

Novel Gene Mutation linked to Wilms’ Tumor

Garden of Healing®

Washington, DC

Massachusetts General Hospital research scientists have identified a novel gene mutation linked to the most common type of kidney cancer in children, and stressed how this discovery will help doctors determine which young patients are most at risk of dying.

Writing Thursday in the journal Science, researchers said about 30 percent of cases of the cancer called Wilms’ Tumor involve mutations in a gene called WTX located on the sex-determining X chromosome.

Wilms’ Tumor, also called nephroblastoma, usually appears by the age of 5, and occurs in roughly one in 10,000 children worldwide. About 90 percent of childhood kidney cancer cases are Wilms’ Tumor. It is treated with surgery and chemotherapy, with about 80 percent of patients surviving. In up to 15 percent of cases, however, current treatment protocols fail.

Those with a family history of the disease have an increased risk of developing the cancer in both kidneys and require more complex approaches to treatment.

Scientists can now determine whether the WTX gene can help predict the severity of a child’s case of Wilms’ Tumor to help guide treatment. If able to determine a child had a less-threatening case, doctors might then be able to tailor less-intensive treatment.

The kidneys filter the blood and rid the body of unneeded water, salt and waste in the form of urine. Childhood kidney tumors originate in the early stem cells – those that will form the organ – of the kidney’s filtering mechanism, the researchers said.

The WTX gene is in play in cells important to embryonic kidney development, indicating it may have a significant role in the organ’s formation. The discovery also indicates that X chromosome genes may have a bigger role in cancer than previously believed.

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