Nuclear Oncology

The origin of leukemia in people Dawn

It is known that people with a change in chromosome 21 have increased risk for a type of leukemia, now a new study provides new clues about what may be the cause. People with Down syndrome include a risk 20 times higher than the rest of the population suffer acute lymphoblastic leukemia.

The journal ‘The Lancet, published research that suggests that the molecular cause of this phenomenon could be a mutation of the JAK2 gene. Researchers have analyzed bone marrow samples of 87 patients with leukemia associated with Down syndrome and other 216 patients with leukemia, but without this condition. In the first, 18% had an acquired mutation in the JAK2 gene and also were younger at diagnosis (4.5 years) than the other patients with CLL (8.6 years). The genetic alteration was found only in one of the other children without Down syndrome.

Izraeli Shai, a researcher in charge of the group of Israeli scholars Sheba Medical Center, believe that the type of mutations they have observed in the JAK2 gene define a subset of leukemias inherent characteristic of individuals with Down syndrome. And more importantly, they add that it would be possible to design JAK2 inhibitors for the treatment of this type of blood cancer.

In turn, Izraeli remember that children with Down syndrome are particularly susceptible to the toxic effects of chemotherapy, which recognizes the importance of finding another way to inhibit this mutation and can be effective against leukemia. The study speaks of an early-stage trial to test the effectiveness of some inhibitors of JAK2, by suggesting that children with Down syndrome and associated leukemia might be good candidates to benefit from these tests.

For his part, Charles Mullighan, St Jude Children’s Hospital in Memphis (USA) underlines the importance of continuing to discover the secrets of leukemia gene, but stresses that this is just one in a long list of mutations necessary for the development of the disease.