Difference between revisions of "Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray"
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| PMID:26829751; PMID:23633565; PMID:26778052 PMID:23583981 | | PMID:26829751; PMID:23633565; PMID:26778052 PMID:23583981 | ||
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| + | | Ganglioglioma | ||
| + | | 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 | ||
| + | | Generally indolent tumors for which surgical resection can be curative | ||
| + | | PMID:25461780; PMID:23583981; PMID:11996800 PMID:23609006; PMID:29880043 | ||
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Revision as of 13:42, 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 | |
| Ganglioglioma | 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 | Generally indolent tumors for which surgical resection can be curative | PMID:25461780; PMID:23583981; PMID:11996800 PMID:23609006; PMID:29880043 | |