Genetic basis of acute myeloid leukemia (AML): The most common molecular changes in patients with normal karyotype

Figures & Tables

No	Mutation type/name	DNA sequences: wild-type (black) and mutated (red)
1.	No mutation (wt)	gatctct	-	g	-	gcagt	-	ggagg	aagtctctttaagaaaatag
2.	A	gatctct	-	g	TCTG	gcagt	-	ggagg	aagtctctttaagaaaatag
3.	B	gatctct	-	g	CATG	gcagt	-	ggagg	aagtctctttaagaaaatag
4.	C	gatctct	-	g	CGTG	gcagt	-	ggagg	aagtctctttaagaaaatag
5.	D	gatctct	-	g	CCTG	gcagt	-	ggagg	aagtctctttaagaaaatag
6.	E	gatctct	-	g	-	gcagt	CTCTTGCCC	-	aagtctctttaagaaaatag
7.	F	gatctct	-	g	-	gcagt	CCCTGGAGA	-	aagtctctttaagaaaatag
8.	G	gatctct	-	g	-	gcagt	GCTTCGCC	-	aagtctctttaagaaaatag
9.	H	gatctct	-	g	-	gcagt	GTTTTTCAA	-	aagtctctttaagaaaatag
10.	J	gatctct	-	g	-	gcagt	CTCTTTCTA	-	aagtctctttaagaaaatag
11.	L	gatctct	CCCG	g	-	gcagt	-	-	aagtctctttaagaaaatag
12.	K	gatctct	-	g	-	gcagt	CCCTTTCCA	-	aagtctctttaagaaaatag
13.	M	gatctct	-	g	TAGC	gcagt	-	ggagg	aagtctctttaagaaaatag
14.	N	gatctct	-	g	CCAC	gcagt	-	ggagg	TCTCTTTaagaaaatag

Risk category	Genetic abnormality
Favorable	t(8;21)(q22;q22) RUNX1-RUNX1T1, inv(16)(p13q22) or t(16;16)(p13;q22) CBFB-MYH11, mutated NPM1 without FLT3-ITD or with low allelic ratio FLT3-ITD (VAF<0,5), biallelic mutated CEBPA.
Intermediate	t(9;11)(p21;q23) MLLT3-KMT2A, cytogenetic abnormalities not classified as favorable or adverse, mutated NPM1 with high allelic ratio FLT3-ITD (VAF>0,5), wild type NPM1 without FLT3-ITD or with low allelic ratio FLT3-ITD,
Adverse	t(6;9)(p23;q34) DEK-NUP214, t(v;11q23.3); KMT2A rearranged, t(9;22)(q34;q11) BCR-ABL1, inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM rearranged, −5 or del(5q); −7; −17 or del(17p), complex or monosomal karyotype, wild type NPM1 with high allelic ratio FLT3-ITD (VAF>0,5), mutated RUNX1, TP53 or ASXL1.