Acute lymphoblastic leukemia (ALL) is the most common childhood cancer and while cure rates are high, there is still a proportion of children that relapse and the disease is associated with long-term treatment-associated morbidity and mortality. In order to find better treatment approaches, researcher Adam de Smith, PhD is studying high hyperdiploidy (HeH) ALL, the most common cytogenic subtype, found in about one third of children with the disease.
The HeH subtype is characterized by a specific gain in chromosomes in the cancer cells – the initiating event – but there is a need to understand the other mutations that drive the disease.
De Smith used the Cancer Center’s 500 Cancer Genes Sequencing Panel to carry out next-generation sequencing of tumor DNA from HeH ALL cases. He has found some intriguing novel mutations and is the process of narrowing down the potential mutations with the goal of eventually identifying new and better treatment targets.
“It’s exciting that Dr. Boris Bastian has assembled a 500 cancer gene sequencing panel in the Clinical Cancer Genomics Lab that physicians can use to sequence a tumor and, hopefully, better tailor treatment towards the individual, as well as researchers like myself to use to learn more about what causes the tumor itself,” says de Smith, who is one of three scientists in the nation sharing a $1.35 million award from Alex’s Lemonade Stand Foundation (ALSF), a nonprofit organization dedicated to finding cures for childhood cancers. De Smith’s ALSF project is focused on determining why children with Down syndrome have a much greater risk of developing ALL.
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