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. 2013 Jul 29;122(10):1707–1711. doi: 10.1182/blood-2013-05-500959

Figure 1.

Figure 1

Mutations in CSF3R and SETBP1 are common in CNL and aCML. Percentages of CSF3R, SETBP1, and JAK2 V617F mutations in 29 patients with CNL or aCML are shown. CSF3R mutations arise in 2 classes, nonsense or frameshift mutations that truncate the cytoplasmic tail (truncation mutations) and point mutations in the extracellular domain (membrane proximal mutation), and some cases exhibit both classes of mutations on the same allele (compound mutations). These mutations can occur in isolation or in combination with other mutant genes, with 21% of patients having both CSF3R and SETBP1 mutations. One patient exhibited mutations in both CSF3R (G683R) and JAK2 (V617F); however, the clonality of this double mutation could not be established due to limited material, presenting the possibility of polyclonal populations of tumor cells with distinct mutational profiles. The frequencies of each class of CSF3R mutation alone or in combination with SETBP1 or JAK2 are shown for a combined cohort of CNL and aCML (n = 29), the CNL cases only (n = 9), and the aCML cases only (n = 20).