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Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)

Revision as of 07:27, 16 November 2018

63 bytes added ,  07:27, 16 November 2018
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| Pilocytic astrocytoma/pilomyxoid astrocytoma
 
| Pilocytic astrocytoma/pilomyxoid astrocytoma
 
| Some tumors show polysomy 7; other polysomies more common in adult PA
 
| 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
+
| '''Fusions:''' KIAA1549-BRAF fusion (via 3'BRAF duplication), other BRAF partners reported; NTRK fusions (rare); FGFR1 fusions (rare) <br>
 +
'''Mutations:''' BRAF V600E (particularly extra-cerebellar tumors); FGFR1 (midline PA); NF1 (esp. germline), other MAPK pathway mutations <br>
 +
'''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
 
| 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  
 
| PMID:19016743; PMCID:2761618; PMID:18716556 PMID:25461780  PMID:25664944; PMID:26378811 PMCID:3429698; PMID:23817572; PMID:23583981 PMID:18974108; PMID:23278243; PMID:21274720  
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| Angiocentric glioma
 
| Angiocentric glioma
 
| Aberrations involving 6q24-q25
 
| Aberrations involving 6q24-q25
−
| '''Fusions:''' MYB-QKI rearrangement/deletion (classic histology); '''Rearrangement:''' MYB alone (atypical histology); '''Amplification:''' MYB (atypical histology)
+
| '''Fusions:''' MYB-QKI rearrangement/deletion (classic histology)<br>
 +
'''Rearrangement:''' MYB alone (atypical histology)<br>
 +
'''Amplification:''' MYB (atypical histology)
 
| Generally indolent tumors; surgical resection can be curative
 
| Generally indolent tumors; surgical resection can be curative
 
| PMID:26829751; PMID:23633565; PMID:26778052 PMID:23583981
 
| PMID:26829751; PMID:23633565; PMID:26778052 PMID:23583981
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| Ganglioglioma
 
| Ganglioglioma
 
| Only 30% are abnormal by karyotype '''Gain:''' polysomy 7
 
| Only 30% are abnormal by karyotype '''Gain:''' polysomy 7
−
| '''Mutations:''' BRAF V600E in 20-60% of cases (can be concurrent with CDKN2A homozygous deletion); '''Fusions:''' KIAA1549-BRAF
+
| '''Mutations:''' BRAF V600E in 20-60% of cases (can be concurrent with CDKN2A homozygous deletion)<br>
 +
'''Fusions:''' KIAA1549-BRAF
 
| Generally indolent tumors for which  surgical resection can be curative  
 
| Generally indolent tumors for which  surgical resection can be curative  
 
| PMID:25461780; PMID:23583981; PMID:11996800 PMID:23609006; PMID:29880043
 
| PMID:25461780; PMID:23583981; PMID:11996800 PMID:23609006; PMID:29880043
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|Diffuse astrocytoma
 
|Diffuse astrocytoma
 
|No diagnostic aberrations  
 
|No diagnostic aberrations  
−
| '''Rearrangement:''' MYBL1 truncating rearrangements and tandem duplication, FGFR1 rearrangements; '''Mutation:''' FGFR1  
+
| '''Rearrangement:''' MYBL1 truncating rearrangements and tandem duplication, FGFR1 rearrangements<br>
 +
'''Mutation:''' FGFR1  
 
| Anaplastic features associated with decreased progression free survival
 
| Anaplastic features associated with decreased progression free survival
 
| PMID:25664944; PMID:23633565; PMID:26061751 PMID:26824661; PMID:26004297; PMID:25461780  PMID:23583981
 
| PMID:25664944; PMID:23633565; PMID:26061751 PMID:26824661; PMID:26004297; PMID:25461780  PMID:23583981
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| Pleomorphic xanthoastrocytoma (PXA)
 
| Pleomorphic xanthoastrocytoma (PXA)
 
| Polysomy 3, polysomy 7 observed; '''Loss:''' monosomy 9 / 9p deletion
 
| Polysomy 3, polysomy 7 observed; '''Loss:''' monosomy 9 / 9p deletion
−
| '''Mutations:''' BRAF V600E in ~60%; TP53 (5%); '''Loss:''' CDKN2A/CDKN2B  
+
| '''Mutations:''' BRAF V600E in ~60%; TP53 (5%)<br>
 +
'''Loss:''' CDKN2A/CDKN2B  
 
|
 
|
 
| PMID:25461780; PMID:23583981; PMID:16909113; PMID:12484572
 
| PMID:25461780; PMID:23583981; PMID:16909113; PMID:12484572
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| Anaplastic astrocytoma, WHO grade III
 
| Anaplastic astrocytoma, WHO grade III
 
| IDH-mutant or IDH-wild type
 
| IDH-mutant or IDH-wild type
−
| '''Gain:''' 1q, 7/7q, 8q, 10p '''Loss:''' 6q, 9p, 10q, -11/11p, 12q, 13q, 14q, 17p, 19q, -22/22q
+
| '''Gain:''' 1q, 7/7q, 8q, 10p<br>
 +
'''Loss:''' 6q, 9p, 10q, -11/11p, 12q, 13q, 14q, 17p, 19q, -22/22q
 
|
 
|
 
| IDH-wild type astrocytomas can be more clinically aggressive than those that are IDH-mutant
 
| IDH-wild type astrocytomas can be more clinically aggressive than those that are IDH-mutant
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| Anaplastic PXA, WHO grade III / Ganglioglioma, WHO Grade III
 
| Anaplastic PXA, WHO grade III / Ganglioglioma, WHO Grade III
 
| '''Loss:''' monosomy 9 / 9p deletion, but no diagnostic findings
 
| '''Loss:''' monosomy 9 / 9p deletion, but no diagnostic findings
−
| '''Mutation:'''  BRAF V600E less common here than in PXA, grade II '''Loss:''' CDKN2A/CDKN2B
+
| '''Mutation:'''  BRAF V600E less common here than in PXA, grade II  
 +
'''Loss:''' CDKN2A/CDKN2B
 
| CDKN2A/CDKN2B loss may correlate with anaplastic histology
 
| CDKN2A/CDKN2B loss may correlate with anaplastic histology
 
| WHO CNS Tumors (2016),  PMID:25318587; PMID:23096133; PMID:21274720
 
| WHO CNS Tumors (2016),  PMID:25318587; PMID:23096133; PMID:21274720
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|Glioblastoma, WHO grade IV
 
|Glioblastoma, WHO grade IV
 
|IDH-mutant  
 
|IDH-mutant  
−
|'''Gain:''' 1q, 2q, 3q, 7, 16p, 17q, 21q '''Loss:''' 6q, 8q, 9p, 9q, 10q, 13q, 17p, 22q ''' Chromothripsis:''' observed
+
|'''Gain:''' 1q, 2q, 3q, 7, 16p, 17q, 21q  
−
|'''Loss:''' PTEN, RB1, TP53, CDKN2A/B/C '''Fusions:''' FGFR-TACC; NTRK fusions '''Amplification:''' PDGFRA, MYCN, MET, CDK4, CDK6 (EGFR, MDM2 amp rare) '''Mutations:''' IDH1/2 (rare in pediatric GBM), KRAS, RAS pathway, RB1 pathway, TP53 pathway, FGFR1, H3.3/H3.1-K27M (exclusively in diffuse midline tumors), PDGFRA, NF1, SETD2, ATRX, DAXX  
+
'''Loss:''' 6q, 8q, 9p, 9q, 10q, 13q, 17p, 22q
 +
''' Chromothripsis:''' observed
 +
|'''Loss:''' PTEN, RB1, TP53, CDKN2A/B/C  
 +
'''Fusions:''' FGFR-TACC; NTRK fusions  
 +
'''Amplification:''' PDGFRA, MYCN, MET, CDK4, CDK6 (EGFR, MDM2 amp rare)<br>
 +
'''Mutations:''' IDH1/2 (rare in pediatric GBM), KRAS, RAS pathway, RB1 pathway, TP53 pathway, FGFR1, H3.3/H3.1-K27M (exclusively in diffuse midline tumors), PDGFRA, NF1, SETD2, ATRX, DAXX  
 
| Overall poor prognosis
 
| Overall poor prognosis
 
|PMID:25752754; PMID:25727226; PMID:26328271; PMID:22837387;  PMID:25754088; PMID:25461780; PMCID:1891902; PMID:23417712; PMCID:5323185;  PMID:29687258; PMID:20479398; PMID:24959384
 
|PMID:25752754; PMID:25727226; PMID:26328271; PMID:22837387;  PMID:25754088; PMID:25461780; PMCID:1891902; PMID:23417712; PMCID:5323185;  PMID:29687258; PMID:20479398; PMID:24959384
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|Diffuse midline glioma, H3 K27M mutant
 
|Diffuse midline glioma, H3 K27M mutant
 
|
 
|
−
|'''Gain:''' 1q, 2, 7, 8 '''Loss:''' 10q '''Chromothripsis:''' 2p
+
|'''Gain:''' 1q, 2, 7, 8<br>
−
|'''Three molecular subgroups:''' '''MYCN subgroup:''' no mutations but chromothripsis leading to amp of MYCN and ID2; '''Silent subgroup:''' no recurrent copy # changes, few mutations; '''H3-K27M subgroup:''' MYC, PDGFRA gains/amp; RB1, TP53 deletions '''Mutation:''' ACVR1, H3F3A, HIST1H3B, TP53 '''Loss:''' CDKN2A, PTEN, RB1, TP53 '''Amplification:''' MYC, MYCN, ID2, PDGFRA  
+
'''Loss:''' 10q<br>
 +
'''Chromothripsis:''' 2p
 +
|'''Three molecular subgroups:''' <br>
 +
'''MYCN subgroup:''' no mutations but chromothripsis leading to amp of MYCN and ID2<br>
 +
'''Silent subgroup:''' no recurrent copy # changes, few mutations<br>
 +
'''H3-K27M subgroup:''' MYC, PDGFRA gains/amp; RB1, TP53 deletions<br>
 +
'''Mutation:''' ACVR1, H3F3A, HIST1H3B, TP53 '''Loss:''' CDKN2A, PTEN, RB1, TP53<br>
 +
'''Amplification:''' MYC, MYCN, ID2, PDGFRA  
 
|Overall poor prognosis regardless of subgroup
 
|Overall poor prognosis regardless of subgroup
 
|PMCID:3280796; PMID:24705254; PMID:24705252 PMID:27048880; PMID:26175967; PMID:24705251; PMID:28966033
 
|PMCID:3280796; PMID:24705254; PMID:24705252 PMID:27048880; PMID:26175967; PMID:24705251; PMID:28966033
Retrieved from "https://ccga.io/index.php/Special:MobileDiff/5315"

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