Beyond KIT in CBF-AML: chromatin and cohesin

Abstract

In this issue of Blood, Duployez et al present results from mutational profiling of >200 patients with core binding factor acute myeloid leukemia (CBF-AML). The identified mutational landscape is likely to have clinical relevance and hints at intriguing biological distinctions between these seemingly similar malignancies that will offer deep insights into the aberrant regulatory networks critical for leukemia development.

Mutational profile of CBF-AML. (A) Spectrum of recurrent mutations in 215 pediatric and adult patients with CBF-AML. ASXL1, ASXL2, and EZH2 mutations are mutually exclusive of each other as are mutations of members of the cohesin complex. These mutations were only detected in t(8;21) patients. (B) AML with inv(16) largely lack mutations of chromatin modifiers and cohesion complex members, which are common in t(8;21) AML and AML in general as reported by The Cancer Genome Atlas (TCGA) Research Network. *The TCGA data were derived by whole genome/exome sequencing and therefore are capable of detecting mutations of genes in each respective class not evaluated in this study. This figure has been adapted from Figure 1 in the article by Duployez et al that begins on page 2451.