|
|
| Line 20: |
Line 20: |
| | PMID:19016743; PMCID:2761618; PMID:18716556 PMID:25461780 PMID:25664944; PMID:26378811 PMCID:3429698; PMID:23817572; PMID:23583981 PMID:18974108; PMID:23278243; PMID:21274720 | | | PMID:19016743; PMCID:2761618; PMID:18716556 PMID:25461780 PMID:25664944; PMID:26378811 PMCID:3429698; PMID:23817572; PMID:23583981 PMID:18974108; PMID:23278243; PMID:21274720 |
| |- | | |- |
| | AML including NK-AML
| |
| | CN-LOH
| |
| | 1p
| |
| | | | | |
| | D | | | Angiocentric glioma |
| | 3 | | | Aberrations involving 6q24-q25 |
| | | '''Fusions:''' MYB-QKI rearrangement/deletion (classic histology); '''Rearrangement:''' MYB alone (atypical histology); '''Amplification:''' MYB (atypical histology) |
| | | Generally indolent tumors; surgical resection can be curative |
| | | PMID:26829751; PMID:23633565; PMID:26778052 PMID:23583981 |
| |- | | |- |
| | 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.
| |
|
| |
| ==Reference==
| |
|
| |
| 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.
| |
