Application of the AMLprofiler Diagnostic Microarray in the South African Setting

Table 3

Variant frequency of molecular markers on AMLproflier.

Molecular markers on AMLprofiler	Frequency in our current study	Global frequency in AML	Frequency in Black Africans ()	Frequency in Caucasians ()	References
inv(16)(p13q22)/t(16;16)(p13;q22)	5.7%	5–10%	1.9%	3.8%	[5, 21–27]
t(8;21)(q22;q22)	11.3%	7%–10%	5.6%	5.7%	[5, 26–30]
t(15;17)(q24;q21)	3.8%	5–13%	1.9%	1.9%	[24, 26, 27, 29, 31–33]
CEBPA double mutant	1.9%	5–14%	0	1.9%	[34–41]
NPM1-ABD mutations	9.4%	25–40%	1.9%	7.5%	[13, 16, 42–47]
EVI1-high expression	18.9%	8–10%	15.1%	3.8%	[10, 17, 48–50]
BAALC-low expression	28.3%	26%	13.2%	15.1%	[11]