Difference between revisions of "Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray"

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| 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.
 

Revision as of 13:02, 15 November 2018

Recurrent Genomic Alterations in Pediatric and Adult CNS Detected by Chromosomal Microarray (Literature Review)

Table 1 - Pediatric Central Nervous System Tumors. Table derived from Ligon et al., 2018 [ ] with permission from Cancer Genetics.

TUMOR SUBTYPES BROAD ABERRATIONS (>10Mb) FOCAL ABERRATIONS (>10Mb) CLINICAL FEATURES REFERENCES
GLIOMAS
Low grade glioma, WHO grade I Pilocytic astrocytoma/pilomyxoid astrocytoma Some tumors show polysomy 7; other polysomies more common in adult PA Fusions: KIAA1549-BRAF fusion (via 3'BRAF duplication), other BRAF partners reported; NTRK fusions (rare); FGFR1 fusions (rare); Mutations: BRAF V600E (particularly extra-cerebellar tumors); FGFR1 (midline PA); NF1 (esp. germline), other MAPK pathway mutations Loss: NF1 in optic pathway PA Classic PA are cerebellar (most commonly associated with BRAF duplication); PA in patients with germline NF1 alterations often develop as optic gliomas;Surgical resection can be curative; PMA generally more aggressive than PA; BRAF fusions and BRAF mutations generally are mutually exclusive PMID:19016743; PMCID:2761618; PMID:18716556 PMID:25461780 PMID:25664944; PMID:26378811 PMCID:3429698; PMID:23817572; PMID:23583981 PMID:18974108; PMID:23278243; PMID:21274720
Angiocentric glioma 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
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