Scientists Crack Genetic Code For Rare Childhood Leukemia Variation
Scientists believe they've cracked the code to a rare variation of childhood leukemia, and the key involves an abnormal gene.
Researchers at St. Jude's Children's Research Hospital and Washington University jointly pursued the research, which is highlighted in detail in the journal Cancer Cell. And their finding could lead to better diagnostic tools and new treatments for patients with acute megakaryoblastic leukemia (AMKL), which affects 10 of children with pediatricacute myeloid leukemia.
The key turns out to be the CBFA2T3-GLIS2 protein, a weird fusion of what is normally a blood protein and a protein typically produced in kidneys. Researchers determined in the lab that the CBFA2T3-GLIS2 fusion gene is key because it turns on other genes that propel immature blood cells to keep dividing even as normal cells pass on, something that is channeled directly into the emergence of leukemia.
What's more, treatments seem to be at a high risk of failure for patients found to have the CBFA2T3-GLIS2 fusion gene, according to the research team. But checking long-term survival records of 40 AMKL patients globally, they found that just 28 of patients who had the gene fusion survived long-term. For patients without the gene, that number jumped to 42.
Corresponding author Dr. James Downing, scientific director at St. Jude, said in a statement that the finding should help boost both diagnostic testing and more targeted, therapeutic treatments. That may be true in the long term, but the research is years away from fruition. What it does, however, is open the door to the development of more targeted treatments. In the future, it could also enable earlier diagnosis, and a more rapid treatment might help increase survival times.
St. Jude and Washington University are in the midst of a three-year collaboration known as the Pediatric Cancer Genome Project, where they are focusing on sequencing both normal and cancer genomes from 600 children and teens who have aggressive and rare cancers.
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