According to an article recently published in the journal Blood, KIT gene mutations among pediatric patients diagnosed with acute myeloid leukemia (AML) are associated with a poor prognosis, including shorter survival. Patients with this mutation may benefit from alternative or more aggressive treatment options.

Acute myeloid leukemia is a cancer of the bone marrow and blood characterized by the rapid, uncontrolled growth of immature white blood cells known as myelocytes. The disease is more common in adults than in children; average age at diagnosis is more than 65 years.

Increasing the dose intensity of therapy has contributed to relatively large improvements in survival of younger patients with AML over the past two decades; this includes stem cell transplants. However, pediatric patients diagnosed with AML still experience very different outcomes. In order to develop individualized treatments, researchers continue to explore possible patient or disease characteristics that may be associated with these differences in outcomes.

Researchers from Japan recently conducted a clinical study to evaluate possible genetic mutations (alterations) that may be associated with differences in outcomes among pediatric patients with AML. This study included patients with a type of AML referred to as t(8;21). Patients with a mutation in a specific region of the KIT gene had significantly poorer outcomes than those without the KIT mutations:

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  • Four-year overall survival was only 50% among children with KIT mutations, compared with 97.4% among children without KIT mutations.
  • Four-year cancer-free survival was only 37.5% among children with KIT mutations, compared with 94.7% among children without KIT mutations.
  • 47% of children with KIT mutations experienced a relapse of their cancer, compared with only 2.7% of children without KIT mutations.

The researchers concluded that KIT gene mutations among pediatric patients with t(8;21) AML are associated with significantly poorer outcomes, including survival. Although further study is needed, these results will help identify patients according to prognosis and may help to individualize therapeutic options for patients with this disease.

Reference: Shimada A, Taki T, Tabuchi K, et al. KIT mutations, and not FLT3 internal tandem duplication, are strongly associated with a poor prognosis in pediatric acute myeloid leukemia with t(8;21): a study of the Japanese Childhood AML Cooperative Study Group. Blood. 2006; 107:1806-1809.

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