Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray

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==Recurrent Genomic Alterations in Pediatric and Adult CNS Detected by Chromosomal Microarray

Table 1 - Pediatric Central Nervous System Tumors. Table derived from CGC CNS Workgroup 2018.

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
Low grade glioma, WHO grade II Diffuse astrocytoma No diagnostic aberrations Rearrangement: MYBL1 truncating rearrangements and tandem duplication, FGFR1 rearrangements; Mutation: FGFR1 Anaplastic features associated with decreased progression free survival PMID:25664944; PMID:23633565; PMID:26061751 PMID:26824661; PMID:26004297; PMID:25461780 PMID:23583981
Pleomorphic xanthoastrocytoma (PXA) Polysomy 3, polysomy 7 observed; Loss: monosomy 9 / 9p deletion Mutations: BRAF V600E in ~60%; TP53 (5%); Loss: CDKN2A/CDKN2B PMID:25461780; PMID:23583981; PMID:16909113; PMID:12484572