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Secrets of Leukemia Appear in the Womb

Update Date: Apr 09, 2013 12:24 PM EDT

Leukemia is one of the most common types of cancer in children. According to the American Cancer Society, 1 in 3 children with cancer are diagnosed with leukemia. Though researchers were already aware that quite a few faulty genes and environmental triggers were to blame for the development of the disease, researchers wanted to pinpoint one single cause that can set the whole illness in motion. Indeed, by analyzing the genetics of two sets of twins, researchers found that leukemia was triggered in the womb. Their findings could lead to new and effective treatments for the cancer.

According to the BBC, researchers decided to focus on acute lymphoblastic leukemia (ALL), the most common type of leukemia in children. Though the disease can often be cured, the treatments come with a number of side effects.

The researchers decided to study twins because they inherit a single set of genes both parents. Both sets of twins developed the disease at around the age of four years old. The researchers sequenced their entire genomes in the hopes of finding a single gene mutation. If the researchers were able to find the mutation that triggered the entire disease, they would be able to find a gene that was present in each of the cancerous cells.

According to Medical News Today, the scientists found a notable mutation called ETV6-RUNX1. The gene commonly causes leukemia and is generated in the womb. The researchers suspect that the gene arose in one twin, then advanced to other as cells carrying the mutation used the same circulation that twins share in the womb. They suspect that this gene is the source of the chain reaction that leads to leukemia.

The twins also had 22 other mutations. However, those were not shared between the twins. That leads the researchers to suspect that the mutations developed after they were born, building up as the disease developed.

Another mutation, called NF1, appeared in the second pair of twins. This gene was inherited from their parents. The mutation predisposed the twins to neurofibromatosis, a condition that is considered to be a risk factor for leukemia.

The study was published in the journal Proceedings of the National Academy of Sciences.

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