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Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)
Revision as of 12:48, 16 April 2021
, 12:48, 16 April 2021updated citation
'''Mutation:''' NF2, PI3K, SMO, AKT1, KLF4, TRAF7, TERT, ARID1A
'''Mutation:''' NF2, PI3K, SMO, AKT1, KLF4, TRAF7, TERT, ARID1A
|Array findings characteristic of higher grade tumors when histology supports lower grade may suggest increased likelihood of recurrence. Polysomy, particularly involving chromosome 5, are seen in angiomatous meningiomas. LOH 1p and/or LOH 1p/14q correlated with anaplastic transformation.
|Array findings characteristic of higher grade tumors when histology supports lower grade may suggest increased likelihood of recurrence. Polysomy, particularly involving chromosome 5, are seen in angiomatous meningiomas. LOH 1p and/or LOH 1p/14q correlated with anaplastic transformation.
|PMID:23528542; PMID:27575681; PMID:20015288 PMID:21988727; PMID19918127; PMID:25347344 PMID:23334667; PMID:25963524; PMID:26826201 PMID:28195122; PMID:26323607;
|<ref name=":24" />PMID:23528542; <ref name=":49">{{Cite journal|last=Och|first=Waldemar|last2=Szmuda|first2=Tomasz|last3=Sikorska|first3=Beata|last4=Springer|first4=Janusz|last5=Jaskólski|first5=Dariusz|last6=Zakrzewska|first6=Magdalena|last7=Liberski|first7=Paweł P.|date=2016-11-XX|title=Recurrence-associated chromosomal anomalies in meningiomas: Single-institution study and a systematic review with meta-analysis|url=https://pubmed.ncbi.nlm.nih.gov/27575681|journal=Neurologia I Neurochirurgia Polska|volume=50|issue=6|pages=439–448|doi=10.1016/j.pjnns.2016.08.003|issn=0028-3843|pmid=27575681}}</ref>PMID:27575681; <ref name=":50">{{Cite journal|last=Lee|first=Yohan|last2=Liu|first2=Jason|last3=Patel|first3=Shilpa|last4=Cloughesy|first4=Timothy|last5=Lai|first5=Albert|last6=Farooqi|first6=Haumith|last7=Seligson|first7=David|last8=Dong|first8=Jun|last9=Liau|first9=Linda|date=2010-07|title=Genomic landscape of meningiomas|url=https://pubmed.ncbi.nlm.nih.gov/20015288|journal=Brain Pathology (Zurich, Switzerland)|volume=20|issue=4|pages=751–762|doi=10.1111/j.1750-3639.2009.00356.x|issn=1750-3639|pmc=3167483|pmid=20015288}}</ref>PMID:20015288 <ref>{{Cite journal|last=Jansen|first=M.|last2=Mohapatra|first2=G.|last3=Betensky|first3=R. A.|last4=Keohane|first4=C.|last5=Louis|first5=D. N.|date=2012-04|title=Gain of chromosome arm 1q in atypical meningioma correlates with shorter progression-free survival|url=https://pubmed.ncbi.nlm.nih.gov/21988727|journal=Neuropathology and Applied Neurobiology|volume=38|issue=2|pages=213–219|doi=10.1111/j.1365-2990.2011.01222.x|issn=1365-2990|pmc=3563294|pmid=21988727}}</ref>PMID:21988727; <ref name=":51">{{Cite journal|last=Gabeau-Lacet|first=Darlene|last2=Engler|first2=David|last3=Gupta|first3=Sumeet|last4=Scangas|first4=George A.|last5=Betensky|first5=Rebecca A.|last6=Barker|first6=Fred G.|last7=Loeffler|first7=Jay S.|last8=Louis|first8=David N.|last9=Mohapatra|first9=Gayatry|date=2009-10|title=Genomic profiling of atypical meningiomas associates gain of 1q with poor clinical outcome|url=https://pubmed.ncbi.nlm.nih.gov/19918127|journal=Journal of Neuropathology and Experimental Neurology|volume=68|issue=10|pages=1155–1165|doi=10.1097/NEN.0b013e3181ba3952|issn=1554-6578|pmc=2847373|pmid=19918127}}</ref>PMID19918127; <ref name=":52">{{Cite journal|last=Abedalthagafi|first=Malak S.|last2=Merrill|first2=Parker H.|last3=Bi|first3=Wenya Linda|last4=Jones|first4=Robert T.|last5=Listewnik|first5=Marc L.|last6=Ramkissoon|first6=Shakti H.|last7=Thorner|first7=Aaron R.|last8=Dunn|first8=Ian F.|last9=Beroukhim|first9=Rameen|date=2014-11-15|title=Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5|url=https://pubmed.ncbi.nlm.nih.gov/25347344|journal=Oncotarget|volume=5|issue=21|pages=10596–10606|doi=10.18632/oncotarget.2517|issn=1949-2553|pmc=4279396|pmid=25347344}}</ref>PMID:25347344 <ref name=":53">{{Cite journal|last=Brastianos|first=Priscilla K.|last2=Horowitz|first2=Peleg M.|last3=Santagata|first3=Sandro|last4=Jones|first4=Robert T.|last5=McKenna|first5=Aaron|last6=Getz|first6=Gad|last7=Ligon|first7=Keith L.|last8=Palescandolo|first8=Emanuele|last9=Van Hummelen|first9=Paul|date=2013-03|title=Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations|url=https://pubmed.ncbi.nlm.nih.gov/23334667|journal=Nature Genetics|volume=45|issue=3|pages=285–289|doi=10.1038/ng.2526|issn=1546-1718|pmc=3739288|pmid=23334667}}</ref>PMID:23334667; <ref name=":54">{{Cite journal|last=Abedalthagafi|first=Malak S.|last2=Bi|first2=Wenya Linda|last3=Merrill|first3=Parker H.|last4=Gibson|first4=William J.|last5=Rose|first5=Matthew F.|last6=Du|first6=Ziming|last7=Francis|first7=Joshua M.|last8=Du|first8=Rose|last9=Dunn|first9=Ian F.|date=2015-06|title=ARID1A and TERT promoter mutations in dedifferentiated meningioma|url=https://pubmed.ncbi.nlm.nih.gov/25963524|journal=Cancer Genetics|volume=208|issue=6|pages=345–350|doi=10.1016/j.cancergen.2015.03.005|issn=2210-7762|pmc=4882906|pmid=25963524}}</ref>PMID:25963524; <ref name=":55">{{Cite journal|last=Abedalthagafi|first=Malak|last2=Bi|first2=Wenya Linda|last3=Aizer|first3=Ayal A.|last4=Merrill|first4=Parker H.|last5=Brewster|first5=Ryan|last6=Agarwalla|first6=Pankaj K.|last7=Listewnik|first7=Marc L.|last8=Dias-Santagata|first8=Dora|last9=Thorner|first9=Aaron R.|date=2016-05|title=Oncogenic PI3K mutations are as common as AKT1 and SMO mutations in meningioma|url=https://pubmed.ncbi.nlm.nih.gov/26826201|journal=Neuro-Oncology|volume=18|issue=5|pages=649–655|doi=10.1093/neuonc/nov316|issn=1523-5866|pmc=4827048|pmid=26826201}}</ref>PMID:26826201 <ref name=":56">{{Cite journal|last=Harmancı|first=Akdes Serin|last2=Youngblood|first2=Mark W.|last3=Clark|first3=Victoria E.|last4=Coşkun|first4=Süleyman|last5=Henegariu|first5=Octavian|last6=Duran|first6=Daniel|last7=Erson-Omay|first7=E. Zeynep|last8=Kaulen|first8=Leon D.|last9=Lee|first9=Tong Ihn|date=2017-02-14|title=Integrated genomic analyses of de novo pathways underlying atypical meningiomas|url=https://pubmed.ncbi.nlm.nih.gov/28195122|journal=Nature Communications|volume=8|pages=14433|doi=10.1038/ncomms14433|issn=2041-1723|pmc=5316884|pmid=28195122}}</ref>PMID:28195122; <ref name=":57">{{Cite journal|last=Aizer|first=Ayal A.|last2=Abedalthagafi|first2=Malak|last3=Bi|first3=Wenya Linda|last4=Horvath|first4=Margaret C.|last5=Arvold|first5=Nils D.|last6=Al-Mefty|first6=Ossama|last7=Lee|first7=Eudocia Q.|last8=Nayak|first8=Lakshmi|last9=Rinne|first9=Mikael L.|date=2016-02|title=A prognostic cytogenetic scoring system to guide the adjuvant management of patients with atypical meningioma|url=https://pubmed.ncbi.nlm.nih.gov/26323607|journal=Neuro-Oncology|volume=18|issue=2|pages=269–274|doi=10.1093/neuonc/nov177|issn=1523-5866|pmc=4724184|pmid=26323607}}</ref>PMID:26323607;
PMID:11958368; PMID:25965831; PMID:24536048; PMID:24722350 PMID:12568317; PMID:26771848; PMID:27012381;
PMID:11958368; PMID:25965831; PMID:24536048; PMID:24722350 PMID:12568317; PMID:26771848; PMID:27012381;
PMID:27480481; PMID:27624470; PMID:27624470 PMID:27458586; PMID:25347344; PMID:17225936
PMID:27480481; PMID:27624470; PMID:27624470 PMID:27458586; PMID:17225936
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'''Mutation:''' NF2, CDKN2A/C, SMARCE1, SMARCB1, TERT
'''Mutation:''' NF2, CDKN2A/C, SMARCE1, SMARCB1, TERT
|Gain of 1q is assocociated with a shorter PFS; Loss of 1p, 9p and 10 appear with greater frequency as tumor grade increases.
|Gain of 1q is assocociated with a shorter PFS; Loss of 1p, 9p and 10 appear with greater frequency as tumor grade increases.
|PMID:23528542; PMID:27575681; PMID:20015288 PMID:21988727; PMID19918127; PMID:25347344 PMID:23334667; PMID:25963524; PMID:26826201 PMID:28195122; PMID:26323607; PMID:11958368; PMID:25965831; PMID:24536048; PMID:24722350 PMID:12568317; PMID:26771848; PMID:27012381; PMID:27480481; PMID:27624470; PMID:27624470 PMID:27458586; PMID:25347344; PMID:17225936
|<ref name=":24" />PMID:23528542; <ref name=":49" />PMID:27575681; <ref name=":50" />PMID:20015288 <ref name=":50" />PMID:21988727; <ref name=":51" />PMID19918127; <ref name=":52" />PMID:25347344 <ref name=":53" />PMID:23334667; <ref name=":54" />PMID:25963524; <ref name=":55" />PMID:26826201 <ref name=":56" />PMID:28195122; <ref name=":57" />PMID:26323607; PMID:11958368; PMID:25965831; PMID:24536048; PMID:24722350 PMID:12568317; PMID:26771848; PMID:27012381; PMID:27480481; PMID:27624470; PMID:27624470 PMID:27458586; PMID:17225936
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'''Amplification:''' RPS6K in higher grades, 17q23
'''Amplification:''' RPS6K in higher grades, 17q23
|Loss of 9p and amplification or gain of 17q23 are more frequent than other abnormalities. Gain of 1q is assocociated with a shorter PFS; Loss of 1p, 9p and 10 appear with greater frequency as tumor grade increases.
|Loss of 9p and amplification or gain of 17q23 are more frequent than other abnormalities. Gain of 1q is assocociated with a shorter PFS; Loss of 1p, 9p and 10 appear with greater frequency as tumor grade increases.
|PMID:23528542; PMID:27575681; PMID:20015288 PMID:21988727; PMID19918127; PMID:25347344 PMID:23334667; PMID:25963524; PMID:26826201 PMID:28195122; PMID:26323607; PMID:11958368; PMID:25965831; PMID:24536048; PMID:24722350 PMID:12568317; PMID:26771848; PMID:27012381; PMID:27480481; PMID:27624470; PMID:27624470 PMID:27458586; PMID:25347344; PMID:17225936
|<ref name=":24" />PMID:23528542; <ref name=":49" />PMID:27575681; <ref name=":50" />PMID:20015288 <ref name=":50" />PMID:21988727; <ref name=":51" />PMID19918127; <ref name=":52" />PMID:25347344 <ref name=":53" />PMID:23334667; <ref name=":54" />PMID:25963524; <ref name=":55" />PMID:26826201 <ref name=":56" />PMID:28195122; <ref name=":57" />PMID:26323607; PMID:11958368; PMID:25965831; PMID:24536048; PMID:24722350 PMID:12568317; PMID:26771848; PMID:27012381; PMID:27480481; PMID:27624470; PMID:27624470 PMID:27458586; PMID:17225936
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|'''EPENDYMOMA'''<br>
|'''EPENDYMOMA'''<br>