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Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray (view source)
Revision as of 12:21, 16 April 2021
, 12:21, 16 April 2021updated citation
|Occurs mainly in children < 4 yrs old
|Occurs mainly in children < 4 yrs old
|WHO CNS Tumors (2016)<br>
|WHO CNS Tumors (2016)<br>
PMID:24839957; PMID:24470553 PMID:24337497; PMID:22324795 PMID:20407781, PMID:19057917
<ref>{{Cite journal|last=Spence|first=Tara|last2=Sin-Chan|first2=Patrick|last3=Picard|first3=Daniel|last4=Barszczyk|first4=Mark|last5=Hoss|first5=Katharina|last6=Lu|first6=Mei|last7=Kim|first7=Seung-Ki|last8=Ra|first8=Young-Shin|last9=Nakamura|first9=Hideo|date=2014-08|title=CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity|url=https://pubmed.ncbi.nlm.nih.gov/24839957|journal=Acta Neuropathologica|volume=128|issue=2|pages=291–303|doi=10.1007/s00401-014-1291-1|issn=1432-0533|pmc=4159569|pmid=24839957}}</ref>PMID:24839957; <ref>{{Cite journal|last=Gessi|first=Marco|last2=von Bueren|first2=André O.|last3=Treszl|first3=Andras|last4=zur Mühlen|first4=Anja|last5=Hartmann|first5=Wolfgang|last6=Warmuth-Metz|first6=Monika|last7=Rutkowski|first7=Stefan|last8=Pietsch|first8=Torsten|date=2014-07|title=MYCN amplification predicts poor outcome for patients with supratentorial primitive neuroectodermal tumors of the central nervous system|url=https://pubmed.ncbi.nlm.nih.gov/24470553|journal=Neuro-Oncology|volume=16|issue=7|pages=924–932|doi=10.1093/neuonc/not302|issn=1523-5866|pmc=4057132|pmid=24470553}}</ref>PMID:24470553 <ref>{{Cite journal|last=Korshunov|first=Andrey|last2=Sturm|first2=Dominik|last3=Ryzhova|first3=Marina|last4=Hovestadt|first4=Volker|last5=Gessi|first5=Marco|last6=Jones|first6=David T. W.|last7=Remke|first7=Marc|last8=Northcott|first8=Paul|last9=Perry|first9=Arie|date=2014-08|title=Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity|url=https://pubmed.ncbi.nlm.nih.gov/24337497|journal=Acta Neuropathologica|volume=128|issue=2|pages=279–289|doi=10.1007/s00401-013-1228-0|issn=1432-0533|pmc=4102829|pmid=24337497}}</ref>PMID:24337497; <ref>{{Cite journal|last=Nobusawa|first=Sumihito|last2=Yokoo|first2=Hideaki|last3=Hirato|first3=Junko|last4=Kakita|first4=Akiyoshi|last5=Takahashi|first5=Hitoshi|last6=Sugino|first6=Takashi|last7=Tasaki|first7=Kazuhiro|last8=Itoh|first8=Hideaki|last9=Hatori|first9=Tsutomu|date=2012-09|title=Analysis of chromosome 19q13.42 amplification in embryonal brain tumors with ependymoblastic multilayered rosettes|url=https://pubmed.ncbi.nlm.nih.gov/22324795|journal=Brain Pathology (Zurich, Switzerland)|volume=22|issue=5|pages=689–697|doi=10.1111/j.1750-3639.2012.00574.x|issn=1750-3639|pmid=22324795}}</ref>PMID:22324795 <ref>{{Cite journal|last=Korshunov|first=Andrey|last2=Remke|first2=Marc|last3=Gessi|first3=Marco|last4=Ryzhova|first4=Marina|last5=Hielscher|first5=Thomas|last6=Witt|first6=Hendrik|last7=Tobias|first7=Vivienne|last8=Buccoliero|first8=Anna Maria|last9=Sardi|first9=Iacopo|date=2010-08|title=Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes|url=https://pubmed.ncbi.nlm.nih.gov/20407781|journal=Acta Neuropathologica|volume=120|issue=2|pages=253–260|doi=10.1007/s00401-010-0688-8|issn=1432-0533|pmid=20407781}}</ref>PMID:20407781, <ref>{{Cite journal|last=Pfister|first=Stefan|last2=Remke|first2=Marc|last3=Castoldi|first3=Mirco|last4=Bai|first4=Alfa H. C.|last5=Muckenthaler|first5=Martina U.|last6=Kulozik|first6=Andreas|last7=von Deimling|first7=Andreas|last8=Pscherer|first8=Armin|last9=Lichter|first9=Peter|date=2009-04|title=Novel genomic amplification targeting the microRNA cluster at 19q13.42 in a pediatric embryonal tumor with abundant neuropil and true rosettes|url=https://pubmed.ncbi.nlm.nih.gov/19057917|journal=Acta Neuropathologica|volume=117|issue=4|pages=457–464|doi=10.1007/s00401-008-0467-y|issn=1432-0533|pmid=19057917}}</ref>PMID:19057917
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|Embryonal tumor, other
|Embryonal tumor, other
|Most common in children, but may also occur in adolescents and adults
|Most common in children, but may also occur in adolescents and adults
|WHO CNS Tumors (2016)<br>
|WHO CNS Tumors (2016)<br>
PMID:26919435; PMID:22691720; PMID:22772606
<ref>{{Cite journal|last=Sturm|first=Dominik|last2=Orr|first2=Brent A.|last3=Toprak|first3=Umut H.|last4=Hovestadt|first4=Volker|last5=Jones|first5=David T. W.|last6=Capper|first6=David|last7=Sill|first7=Martin|last8=Buchhalter|first8=Ivo|last9=Northcott|first9=Paul A.|date=2016-02-25|title=New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs|url=https://pubmed.ncbi.nlm.nih.gov/26919435|journal=Cell|volume=164|issue=5|pages=1060–1072|doi=10.1016/j.cell.2016.01.015|issn=1097-4172|pmc=5139621|pmid=26919435}}</ref>PMID:26919435; <ref>{{Cite journal|last=Picard|first=Daniel|last2=Miller|first2=Suzanne|last3=Hawkins|first3=Cynthia E.|last4=Bouffet|first4=Eric|last5=Rogers|first5=Hazel A.|last6=Chan|first6=Tiffany S. Y.|last7=Kim|first7=Seung-Ki|last8=Ra|first8=Young-Shin|last9=Fangusaro|first9=Jason|date=2012-08|title=Markers of survival and metastatic potential in childhood CNS primitive neuro-ectodermal brain tumours: an integrative genomic analysis|url=https://pubmed.ncbi.nlm.nih.gov/22691720|journal=The Lancet. Oncology|volume=13|issue=8|pages=838–848|doi=10.1016/S1470-2045(12)70257-7|issn=1474-5488|pmc=3615440|pmid=22691720}}</ref>PMID:22691720; <ref>{{Cite journal|last=von Bueren|first=André O.|last2=Gerss|first2=Joachim|last3=Hagel|first3=Christian|last4=Cai|first4=Haoyang|last5=Remke|first5=Marc|last6=Hasselblatt|first6=Martin|last7=Feuerstein|first7=Burt G.|last8=Pernet|first8=Sarah|last9=Delattre|first9=Olivier|date=2012-09|title=DNA copy number alterations in central primitive neuroectodermal tumors and tumors of the pineal region: an international individual patient data meta-analysis|url=https://pubmed.ncbi.nlm.nih.gov/22772606|journal=Journal of Neuro-Oncology|volume=109|issue=2|pages=415–423|doi=10.1007/s11060-012-0911-7|issn=1573-7373|pmid=22772606}}</ref>PMID:22772606
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|'''CHOROID PLEXUS TUMORS (CPT)'''
|'''CHOROID PLEXUS TUMORS (CPT)'''
|CPP and aCPP likely belong to same molecularly defined entity; CPP is a diagnostic feature of Aircardi syndrome
|CPP and aCPP likely belong to same molecularly defined entity; CPP is a diagnostic feature of Aircardi syndrome
|WHO CNS Tumors (2016)<br>
|WHO CNS Tumors (2016)<br>
PMID:23172371; PMID:25575132; PMID:25336695 PMID:11891207
<ref>{{Cite journal|last=Safaee|first=Michael|last2=Oh|first2=Michael C.|last3=Bloch|first3=Orin|last4=Sun|first4=Matthew Z.|last5=Kaur|first5=Gurvinder|last6=Auguste|first6=Kurtis I.|last7=Tihan|first7=Tarik|last8=Parsa|first8=Andrew T.|date=2013-03|title=Choroid plexus papillomas: advances in molecular biology and understanding of tumorigenesis|url=https://pubmed.ncbi.nlm.nih.gov/23172371|journal=Neuro-Oncology|volume=15|issue=3|pages=255–267|doi=10.1093/neuonc/nos289|issn=1523-5866|pmc=3578480|pmid=23172371}}</ref>PMID:23172371; <ref name=":39">{{Cite journal|last=Japp|first=Anna Sophia|last2=Gessi|first2=Marco|last3=Messing-Jünger|first3=Martina|last4=Denkhaus|first4=Dorota|last5=Zur Mühlen|first5=Anja|last6=Wolff|first6=Johannes Ernst|last7=Hartung|first7=Stefan|last8=Kordes|first8=Uwe|last9=Klein-Hitpass|first9=Ludger|date=2015-02|title=High-resolution genomic analysis does not qualify atypical plexus papilloma as a separate entity among choroid plexus tumors|url=https://pubmed.ncbi.nlm.nih.gov/25575132|journal=Journal of Neuropathology and Experimental Neurology|volume=74|issue=2|pages=110–120|doi=10.1097/NEN.0000000000000154|issn=1554-6578|pmid=25575132}}</ref>PMID:25575132; <ref name=":40">{{Cite journal|last=Merino|first=Diana M.|last2=Shlien|first2=Adam|last3=Villani|first3=Anita|last4=Pienkowska|first4=Malgorzata|last5=Mack|first5=Stephen|last6=Ramaswamy|first6=Vijay|last7=Shih|first7=David|last8=Tatevossian|first8=Ruth|last9=Novokmet|first9=Ana|date=2015-01-01|title=Molecular characterization of choroid plexus tumors reveals novel clinically relevant subgroups|url=https://pubmed.ncbi.nlm.nih.gov/25336695|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=21|issue=1|pages=184–192|doi=10.1158/1078-0432.CCR-14-1324|issn=1557-3265|pmid=25336695}}</ref>PMID:25336695 <ref>{{Cite journal|last=Rickert|first=Christian H.|last2=Wiestler|first2=Otmar D.|last3=Paulus|first3=Werner|date=2002-03|title=Chromosomal imbalances in choroid plexus tumors|url=https://pubmed.ncbi.nlm.nih.gov/11891207|journal=The American Journal of Pathology|volume=160|issue=3|pages=1105–1113|doi=10.1016/S0002-9440(10)64931-0|issn=0002-9440|pmc=1867193|pmid=11891207}}</ref>PMID:11891207
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'''Amplification:''' PDGFRB
'''Amplification:''' PDGFRB
|80% occur in children; associated with Li-Fraumeni syndrome; Lack of SMARCB1/SMARCA4 aberrations can be used to distinguish CPC from AT/RT
|80% occur in children; associated with Li-Fraumeni syndrome; Lack of SMARCB1/SMARCA4 aberrations can be used to distinguish CPC from AT/RT
|PMID:24478045; PMID:21990040; PMID:25575132; PMID:18157090; PMID:25336695
|<ref>{{Cite journal|last=Ruland|first=Vincent|last2=Hartung|first2=Stefan|last3=Kordes|first3=Uwe|last4=Wolff|first4=Johannes E.|last5=Paulus|first5=Werner|last6=Hasselblatt|first6=Martin|date=2014-05|title=Choroid plexus carcinomas are characterized by complex chromosomal alterations related to patient age and prognosis|url=https://pubmed.ncbi.nlm.nih.gov/24478045|journal=Genes, Chromosomes & Cancer|volume=53|issue=5|pages=373–380|doi=10.1002/gcc.22148|issn=1098-2264|pmid=24478045}}</ref>PMID:24478045; <ref>{{Cite journal|last=Gozali|first=Alexa E.|last2=Britt|first2=Barbara|last3=Shane|first3=Lisa|last4=Gonzalez|first4=Ignacio|last5=Gilles|first5=Floyd|last6=McComb|first6=J. Gordon|last7=Krieger|first7=Mark D.|last8=Lavey|first8=Robert S.|last9=Shlien|first9=Adam|date=2012-06|title=Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010|url=https://pubmed.ncbi.nlm.nih.gov/21990040|journal=Pediatric Blood & Cancer|volume=58|issue=6|pages=905–909|doi=10.1002/pbc.23349|issn=1545-5017|pmid=21990040}}</ref>PMID:21990040; <ref name=":39" />PMID:25575132; <ref>{{Cite journal|last=Nupponen|first=Nina N.|last2=Paulsson|first2=Janna|last3=Jeibmann|first3=Astrid|last4=Wrede|first4=Brigitte|last5=Tanner|first5=Minna|last6=Wolff|first6=Johannes E. A.|last7=Paulus|first7=Werner|last8=Ostman|first8=Arne|last9=Hasselblatt|first9=Martin|date=2008-03|title=Platelet-derived growth factor receptor expression and amplification in choroid plexus carcinomas|url=https://pubmed.ncbi.nlm.nih.gov/18157090|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=21|issue=3|pages=265–270|doi=10.1038/modpathol.3800989|issn=0893-3952|pmid=18157090}}</ref>PMID:18157090; <ref name=":40" />PMID:25336695
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