Difference between revisions of "TestAMLtable"

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! Chromosome
 
! Chromosome
 
! AML Subtype
 
! AML Subtype
−
! Abnormality Type (Gain, Loss, CN-LOH)
+
! Abnormality Type (Amplification, Loss, CN-LOH)
 
! Region
 
! Region
 
! Relevant Genes (if known)
 
! Relevant Genes (if known)
 
! Clinical Significance
 
! Clinical Significance
 
! Level of Evidence
 
! Level of Evidence
−
! Reference
 
 
|-
 
|-
 
| 1
 
| 1
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| D
 
| D
 
| 3
 
| 3
−
| [11, 29, 30, 67-69, 102-104]
 
 
|-
 
|-
 
| 2
 
| 2
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| D
 
| D
 
| 3
 
| 3
−
| [11, 65, 100]
 
 
|-
 
|-
 
| 3
 
| 3
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| D
 
| D
 
| 3
 
| 3
−
| [30, 57, 66]
 
 
|-
 
|-
 
| 4
 
| 4
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| D
 
| D
 
| 3
 
| 3
−
| [67, 71, 105]
 
 
|-
 
|-
 
| 4
 
| 4
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| D, P
 
| D, P
 
| 3
 
| 3
−
| [42, 45, 66]
 
 
|-
 
|-
 
| 5
 
| 5
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| D
 
| D
 
| 1
 
| 1
−
| [24, 33, 45, 49, 57, 66, 77, 87, 88, 106-108]
 
 
|-
 
|-
 
| 6
 
| 6
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| D
 
| D
 
| 3
 
| 3
−
| [29, 30, 102, 104]
 
 
|-
 
|-
 
| 7
 
| 7
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| D
 
| D
 
| 3
 
| 3
−
| [67, 102, 109]
 
 
|-
 
|-
 
| 7
 
| 7
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| D
 
| D
 
| 1
 
| 1
−
| [28, 57, 66, 110]
 
 
|-
 
|-
 
| 8
 
| 8
−
| complex karyotype AML
+
| AML with complex karyotype
 
| Amplification
 
| Amplification
 
| 8q24
 
| 8q24
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| D, P
 
| D, P
 
| 3
 
| 3
−
| [24, 49, 61]
 
 
|-
 
|-
 
| 9
 
| 9
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| D
 
| D
 
| 3
 
| 3
−
| [66, 67, 104]
 
 
|-
 
|-
 
| 11*
 
| 11*
−
| AML w complex karyotype
+
| AML with complex karyotype
 
| Amplification
 
| Amplification
 
| 11q23
 
| 11q23
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| D, P
 
| D, P
 
| 3
 
| 3
−
| [49, 111]
 
 
|-
 
|-
 
| 11*
 
| 11*
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| D
 
| D
 
| 3
 
| 3
−
| [11, 30, 65, 102]
 
 
|-
 
|-
 
| 11
 
| 11
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| D
 
| D
 
| 3
 
| 3
−
| [11, 65-67, 102]
 
 
|-
 
|-
 
| 12
 
| 12
−
| AML, NK-AML, AML w complex karyotype, sAML
+
| AML, NK-AML, AML with complex karyotype, sAML
 
| Loss
 
| Loss
 
| 12p13.2
 
| 12p13.2
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| D
 
| D
 
| 3
 
| 3
−
| [24, 30, 33, 49, 57, 61, 66, 77, 104, 108, 111-115]
 
 
|-
 
|-
 
| 13*
 
| 13*
−
| pAML, NK-AML, NPM1 mutated AML, FLT3-ITD pos AML, sAML
+
| pAML, NK-AML, ''NPM1'' mutated AML, FLT3-ITD positive AML, sAML
 
| CN-LOH
 
| CN-LOH
 
| 13q
 
| 13q
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| D, P
 
| D, P
 
| 2
 
| 2
−
| [11, 28-31, 65-69, 102, 104, 109, 116-118]
 
 
|-
 
|-
 
| 16
 
| 16
−
| NK-AML, AML w complex karyotype, pAML, sAML
+
| NK-AML, AML with complex karyotype, pAML, sAML
 
| Loss
 
| Loss
 
| 16q
 
| 16q
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| D
 
| D
 
| 3
 
| 3
−
| [29, 49, 61, 108]
 
 
|-
 
|-
 
| 17
 
| 17
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| D
 
| D
 
| 3
 
| 3
−
| [11, 28, 29, 65, 67, 102, 107]
 
 
|-
 
|-
 
| 17
 
| 17
−
| sAML, NK-AML, AML w complex karyotype, de novo AML
+
| sAML, NK-AML, AML with complex karyotype, ''de novo'' AML
 
| Loss
 
| Loss
 
| 17p
 
| 17p
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| D, P
 
| D, P
 
| 1
 
| 1
−
| [24, 28, 29, 49, 61, 66, 88, 106-108, 114]
 
 
|-
 
|-
 
| 17
 
| 17
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| D, P
 
| D, P
 
| 3
 
| 3
−
| [24, 28, 29, 47-49, 61, 66, 104, 111]
 
 
|-
 
|-
 
| 19*
 
| 19*
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| D
 
| D
 
| 3
 
| 3
−
| [11, 29, 30, 69, 102, 105]
 
 
|-
 
|-
 
| 20
 
| 20
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| D
 
| D
 
| 3
 
| 3
−
| [24, 66, 119, 120]
 
 
|-
 
|-
 
| 21*
 
| 21*
−
| pAML, AML w complex karyotype
+
| pAML, AML with complex karyotype
 
| Amplification
 
| Amplification
 
| 21q22
 
| 21q22
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| D, P, T
 
| D, P, T
 
| 3
 
| 3
−
| [49, 57, 61, 62, 121]
 
 
|-
 
|-
 
| 21*
 
| 21*
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| D
 
| D
 
| 3
 
| 3
−
| [11, 29, 67, 70, 102-105]
 
 
|-
 
|-
 
| 21*
 
| 21*
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| D
 
| D
 
| 3
 
| 3
−
| [57]
 
 
|-
 
|-
 
|}
 
|}

Revision as of 15:24, 4 November 2018

Table 1 - A comprehensive list of copy number alterations 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
2 AML CN-LOH 2p DNMT3A D 3
3 NK-AML, sAML Loss 3p14.1 FOXP1 D 3
4 sAML, pAML CN-LOH 4q24 TET2 D 3
4 AML, NK-AML, sAML Loss 4q24 TET2 D, P 3
5 pAML, sAML Loss 5q D 1
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
9 NK-AML, sAML CN-LOH 9p JAK2 D 3
11* AML with complex karyotype Amplification 11q23 MLL (KMT2A) D, P 3
11* AML CN-LOH 11p WT1 D 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
20 sAML Loss 20q 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
21* sAML Loss 21q22.12 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.

References

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.

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