Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray
Recurrent Genomic Alterations in AML Detected by Chromosomal Microarray (Literature Review)
Table 1 - 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|
|1||AML including NK-AML||CN-LOH||1p||D||3|
|4||AML, NK-AML, sAML||Loss||4q24||TET2||D, P||3|
|6||AML including NK-AML||CN-LOH||6p||D||3|
|7||AML including NK-AML||CN-LOH||7q||EZH2||D||3|
|7||NK-AML, pAML, sAML||Loss||7q||EZH2, CUX1||D||1|
|8||AML with complex karyotype||Amplification||8q24||MYC||D, P||3|
|11*||AML with complex karyotype||Amplification||11q23||MLL (KMT2A)||D, P||3|
|11||pAML, sAML, NK-AML||CN-LOH||11q||CBL||D||3|
|12||AML, NK-AML, AML with complex karyotype, sAML||Loss||12p13.2||ETV6||D||3|
|13*||pAML, NK-AML, NPM1 mutated AML, FLT3-ITD positive AML, sAML||CN-LOH||13q||FLT3||D, P||2|
|16||NK-AML, AML with complex karyotype, pAML, sAML||Loss||16q||CBFB||D||3|
|17||AML, NK-AML, pAML, sAML||CN-LOH||17p||TP53||D||3|
|17||sAML, NK-AML, AML with complex karyotype, de novo AML||Loss||17p||TP53||D, P||1|
|17||NK-AML, pAML||Loss||17q11.2||NF1, SUZ12||D, P||3|
|19*||AML, NK-AML, sAML||CN-LOH||19q||CEBPA||D||3|
|21*||pAML, AML with complex karyotype||Amplification||21q22||ERG, ETS2||D, P, T||3|
|21*||AML, NK-AML, sAML||CN-LOH||21q||RUNX1||D||3|
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.
Abrreviations: 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.
1. Xu X, Bryke C, Sukhanova M, Huxley E, Dash DP, Dixon-Mciver A, Fang M, Griepp PT, Hodge JC, Iqbal A, Jeffries S, Kanagal-Shamanna R, Quintero-Rivera F, Shetty S, Slovak ML, Yenamandra A, Lennon PA, Raca G. (2018). Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group. Cancer Genet [Epub ahead of print], PMID 30344013.