43. PAX5 partial tandem duplication in pediatric B-ALL: Incidence and clinical, morphologic and genetic correlations

Gain of extra copies of the 5 ′ portion of the PAX5 gene (PAX5-partial tandem duplication or PAX5-PTD) has been proposed to define a specific genetic subgroup of B-ALL (PMID: 30842609), and has most recently been associated with the novel PAX5-alteration driven (PAX5alt) subtype of the disease (PMID: 30643249). We determined t he incidence and clinical, morphologic and molecular correlations of PAX5-PTD in an unselected cohort of 228 B-ALL patients. PAX5-PTD was detected by Chromosomal microarray (CMA) analysis in 5/228 B-ALLs (2.1%).

Source: Cancer Genetics and Cytogenetics - May 31, 2020 Category: Genetics & Stem Cells Authors: Gordana Raca, Matthew Oberley, Le Aye, Andrew Doan, Jianling Ji, Ryan Schmidt, Jaclyn Biegel, Deepa Bhojwani Source Type: research