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Xiaotu Ma, PhD, Department of Computational Biology, overcame technical challenges to provide the most comprehensive picture of intragenic tandem multiplication (PAX5-ITM) B-cell acute lymphoblastic leukemia to date.
About 30% of all cases of the most common childhood cancer, B-cell acute lymphoblastic leukemia (B-ALL), contain genetic alterations in the gene PAX5. One type of PAX5 alteration, intragenic tandem multiplication (PAX5-ITM), partially determines relapse risk, but, until recently, it had not been well characterized, as this particular abnormality is difficult to analyze. A study led by Xiaotu Ma, PhD, Department of Computational Biology, overcame these technical challenges by combining multiple techniques, such as whole genome sequencing, short RNA sequencing and long-read RNA sequencing, to provide the most comprehensive picture of PAX5-ITM to date. They captured these alterations’ genetic architectures, how they change over time and how the PAX5 protein structure is likely impacted. The findings were published in Blood.
“Our data enables the field to further investigate the function of these intriguingly complex events,” Ma said.