Article
A novel somatic JAK2 kinase-domain mutation in pediatric acute lymphoblastic leukemia with rapid on-treatment development of LOH.
Cancer genetics - 1 Oct 2017
Sadras Teresa, Heatley Susan L, Kok Chung H, McClure Barbara J, Yeung David, Hughes Timothy P, Sutton Rosemary, Ziegler David S, White Deborah L
Abstract excerpt
We report a novel somatic mutation in the kinase domain of JAK2 (R938Q) in a high-risk pediatric case of B-cell acute lymphoblastic leukemia (ALL). The patient developed on-therapy relapse at 12 months, and interestingly, the JAK2 locus acquired loss of heterozygosity during treatment resulting in 100% mutation load. Furthermore, we show that primary ALL mononuclear cells harboring the JAK2 R938Q mutation display...
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