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− | ==Recurrent Genomic Alterations in AML Detected by Chromosomal Microarray (Literature Review)== | + | ==Recurrent Genomic Alterations in Pediatric and Adult CNS Detected by Chromosomal Microarray (Literature Review)== |
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− | Table 1 - A comprehensive list of CNAs and CN-LOH detectable by CMA testing with strong diagnostic, prognostic and treatment implications in AML. Table derived from Xu et al., 2018 [PMID 30344013] with permission from Cancer Genetics. | + | Table 1 - Pediatric Central Nervous System Tumors. Table derived from Ligon et al., 2018 [ ] with permission from Cancer Genetics. |
| {| class="wikitable" | | {| class="wikitable" |
| |- | | |- |
− | ! Chromosome | + | ! TUMOR |
− | ! AML Subtype | + | ! SUBTYPES |
− | ! Abnormality Type (Amplification, Loss, CN-LOH) | + | ! BROAD ABERRATIONS (>10Mb) |
− | ! Region | + | ! FOCAL ABERRATIONS (>10Mb) |
− | ! Relevant Genes (if known) | + | ! CLINICAL FEATURES |
− | ! Clinical Significance
| + | ! REFERENCES |
− | ! Level of Evidence
| + | |- |
| + | ! 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 |
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| | AML including NK-AML | | | AML including NK-AML |
| | CN-LOH | | | CN-LOH |