AML Table: Recurrent Genomic Alterations Detected by Chromosomal Microarray

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Table 1 - Recurrent Genomic Alterations in AML Detected by Chromosomal Microarray (Literature Review). This is a comprehensive list of CNAs and CN-LOH detectable by CMA testing with strong diagnostic, prognostic and treatment implications in AML. Table derived from Xu et al., 2018 [PMID 30344013] with permission from Cancer Genetics.

Chromosome AML Subtype Abnormality Type (Amplification, Loss, CN-LOH) Region Relevant Genes (if known) Clinical Significance Level of Evidence References
1 AML including NK-AML CN-LOH 1p D 3 [1][2][3][4][5][6][7][8][9]
2 AML CN-LOH 2p DNMT3A D 3 [1][10][11]
3 NK-AML, sAML Loss 3p14.1 FOXP1 D 3 [3][12][13]
4 sAML, pAML CN-LOH 4q24 TET2 D 3 [4][14][15]
4 AML, NK-AML, sAML Loss 4q24 TET2 D, P 3 [13][16][17]
5 pAML, sAML Loss 5q D 1 [12][13][17][18][19][20][21][22][23][24][25][26]
6 AML including NK-AML CN-LOH 6p D 3 [2][3][7][9]
7 AML including NK-AML CN-LOH 7q EZH2 D 3 [4][7][27]
7 NK-AML, pAML, sAML Loss 7q EZH2, CUX1 D 1 [12][13][28][29]
8 AML with complex karyotype Amplification 8q24 MYC D, P 3 [18][20][30]
9 NK-AML, sAML CN-LOH 9p JAK2 D 3 [4][9][13]
11* AML with complex karyotype Amplification 11q23 MLL (KMT2A) D, P 3 [20][31]
11* AML CN-LOH 11p WT1 D 3 [1][3][7][10]
11 pAML, sAML, NK-AML CN-LOH 11q CBL D 3 [1][4][7][10][13]
12 AML, NK-AML, AML with complex karyotype, sAML Loss 12p13.2 ETV6 D 3 [3][9][12][13][18][19][20][21][26][31][32][33][34][35]
13* pAML, NK-AML, NPM1 mutated AML, FLT3-ITD positive AML, sAML CN-LOH 13q FLT3 D, P 2 [1][2][3][4][5][6][7][9][10][13][27][28][36][37][38][39]
16 NK-AML, AML with complex karyotype, pAML, sAML Loss 16q CBFB D 3 [2][20][26][30]
17 AML, NK-AML, pAML, sAML CN-LOH 17p TP53 D 3 [1][2][4][7][10][25][28]
17 sAML, NK-AML, AML with complex karyotype, de novo AML Loss 17p TP53 D, P 1 [2][18][13][20][23][24][25][26][28][30][34]
17 NK-AML, pAML Loss 17q11.2 NF1, SUZ12 D, P 3 [2][9][13][18][20][28][30][31][40][41]
19* AML, NK-AML, sAML CN-LOH 19q CEBPA D 3 [1][2][3][6][7][15]
20 sAML Loss 20q D 3 [13][18][42][43]
21* pAML, AML with complex karyotype Amplification 21q22 ERG, ETS2 D, P, T 3 [12][20][30][44][45]
21* AML, NK-AML, sAML CN-LOH 21q RUNX1 D 3 [1][2][4][7][8][9][15][46]
21* sAML Loss 21q22.12 RUNX1 D 3 [12]

D = diagnostic significance; P = prognostic significance; T = therapeutic significance. Classification of levels of evidence: Level 1 = WHO classification or professional practice guidelines; Level 2 = well-powered studies with consensus from experts in the field; Level 3 = multiple small studies without any contradicting data; Level 4 = individual small studies, case reports, preclinical studies.

Abbreviations: CMA = chromosomal microarray; CNA = copy number aberration; CN-LOH = copy-neutral loss-of-heterozygosity; AML = acute myeloid leukemia; NK-AML = normal karyotype AML; pAML = primary AML; and sAML = secondary AML.

The * indicates CNAs and CN-LOH regions that are predominantly seen in AML.

Reference

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