Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations

Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a disti...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Kölsche, Christian (VerfasserIn) , Schrimpf, Daniel (VerfasserIn) , Sahm, Felix (VerfasserIn) , Reuss, David (VerfasserIn) , Hou, Yanghao (VerfasserIn) , Sturm, Dominik (VerfasserIn) , Ecker, Jonas (VerfasserIn) , Milde, Till (VerfasserIn) , Pfister, Stefan (VerfasserIn) , Mechtersheimer, Gunhild (VerfasserIn) , Jones, David T. W. (VerfasserIn) , Deimling, Andreas von (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 7 June 2018
In: Acta neuropathologica
Year: 2018, Jahrgang: 136, Heft: 2, Pages: 327-337
ISSN:1432-0533
DOI:10.1007/s00401-018-1871-6
Online-Zugang:Resolving-System, Volltext: https://doi.org/10.1007/s00401-018-1871-6
Verlag: https://link.springer.com/article/10.1007%2Fs00401-018-1871-6
Volltext
Verfasserangaben:Christian Koelsche, Martin Mynarek, Daniel Schrimpf, Luca Bertero, Jonathan Serrano, Felix Sahm, David E. Reuss, Yanghao Hou, Daniel Baumhoer, Christian Vokuhl, Uta Flucke, Iver Petersen, Wolfgang Brück, Stefan Rutkowski, Sandro Casavilca Zambrano, Juan Luis Garcia Leon, Rosdali Yesenia Diaz Coronado, Manfred Gessler, Oscar M. Tirado, Jaume Mora, Javier Alonso, Xavier Garcia del Muro, Manel Esteller, Dominik Sturm, Jonas Ecker, Till Milde, Stefan M. Pfister, Andrey Korshunov, Matija Snuderl, Gunhild Mechtersheimer, Ulrich Schüller, David T. W. Jones, Andreas von Deimling

MARC

LEADER 00000caa a2200000 c 4500
001 1683960343
003 DE-627
005 20220817173415.0
007 cr uuu---uuuuu
008 191202s2018 xx |||||o 00| ||eng c
024 7 |a 10.1007/s00401-018-1871-6  |2 doi 
035 |a (DE-627)1683960343 
035 |a (DE-599)KXP1683960343 
035 |a (OCoLC)1341280299 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Kölsche, Christian  |d 1983-  |e VerfasserIn  |0 (DE-588)1012485080  |0 (DE-627)661827313  |0 (DE-576)345469372  |4 aut 
245 1 0 |a Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations  |c Christian Koelsche, Martin Mynarek, Daniel Schrimpf, Luca Bertero, Jonathan Serrano, Felix Sahm, David E. Reuss, Yanghao Hou, Daniel Baumhoer, Christian Vokuhl, Uta Flucke, Iver Petersen, Wolfgang Brück, Stefan Rutkowski, Sandro Casavilca Zambrano, Juan Luis Garcia Leon, Rosdali Yesenia Diaz Coronado, Manfred Gessler, Oscar M. Tirado, Jaume Mora, Javier Alonso, Xavier Garcia del Muro, Manel Esteller, Dominik Sturm, Jonas Ecker, Till Milde, Stefan M. Pfister, Andrey Korshunov, Matija Snuderl, Gunhild Mechtersheimer, Ulrich Schüller, David T. W. Jones, Andreas von Deimling 
264 1 |c 7 June 2018 
300 |a 11 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Gesehen am 02.12.2019 
520 |a Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling. 
650 4 |a CNS 
650 4 |a DICER1 
650 4 |a DNA-methylation profiling 
650 4 |a EPIC array 
650 4 |a MAPK 
650 4 |a NGS 
650 4 |a Sarcoma 
650 4 |a TP53 
700 1 |a Schrimpf, Daniel  |d 1984-  |e VerfasserIn  |0 (DE-588)1063355044  |0 (DE-627)812332032  |0 (DE-576)422629529  |4 aut 
700 1 |a Sahm, Felix  |d 1984-  |e VerfasserIn  |0 (DE-588)1022852132  |0 (DE-627)717318478  |0 (DE-576)366075020  |4 aut 
700 1 |a Reuss, David  |d 1976-  |e VerfasserIn  |0 (DE-588)143839837  |0 (DE-627)655107894  |0 (DE-576)339294337  |4 aut 
700 1 |a Hou, Yanghao  |d 1990-  |e VerfasserIn  |0 (DE-588)119075438X  |0 (DE-627)1669324311  |4 aut 
700 1 |a Sturm, Dominik  |d 1983-  |e VerfasserIn  |0 (DE-588)1035550709  |0 (DE-627)749549165  |0 (DE-576)383282144  |4 aut 
700 1 |a Ecker, Jonas  |d 1988-  |e VerfasserIn  |0 (DE-588)109722810X  |0 (DE-627)857006886  |0 (DE-576)468135251  |4 aut 
700 1 |a Milde, Till  |d 1973-  |e VerfasserIn  |0 (DE-588)1038311837  |0 (DE-627)75711234X  |0 (DE-576)39229334X  |4 aut 
700 1 |a Pfister, Stefan  |d 1974-  |e VerfasserIn  |0 (DE-588)123850215  |0 (DE-627)706450930  |0 (DE-576)293908400  |4 aut 
700 1 |a Mechtersheimer, Gunhild  |e VerfasserIn  |0 (DE-588)1021953024  |0 (DE-627)715842595  |0 (DE-576)170441598  |4 aut 
700 1 |a Jones, David T. W.  |e VerfasserIn  |0 (DE-588)1058669672  |0 (DE-627)79739334X  |0 (DE-576)414823583  |4 aut 
700 1 |a Deimling, Andreas von  |d 1959-  |e VerfasserIn  |0 (DE-588)103034115X  |0 (DE-627)735093946  |0 (DE-576)378138065  |4 aut 
773 0 8 |i Enthalten in  |t Acta neuropathologica  |d Berlin : Springer, 1961  |g 136(2018), 2, Seite 327-337  |h Online-Ressource  |w (DE-627)253389666  |w (DE-600)1458410-4  |w (DE-576)072283092  |x 1432-0533  |7 nnas  |a Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations 
773 1 8 |g volume:136  |g year:2018  |g number:2  |g pages:327-337  |g extent:11  |a Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations 
856 4 0 |u https://doi.org/10.1007/s00401-018-1871-6  |x Resolving-System  |x Verlag  |3 Volltext 
856 4 0 |u https://link.springer.com/article/10.1007%2Fs00401-018-1871-6  |x Verlag 
951 |a AR 
992 |a 20191202 
993 |a Article 
994 |a 2018 
998 |g 103034115X  |a Deimling, Andreas von  |m 103034115X:Deimling, Andreas von  |d 910000  |d 912000  |e 910000PD103034115X  |e 912000PD103034115X  |k 0/910000/  |k 1/910000/912000/  |p 33  |y j 
998 |g 1058669672  |a Jones, David T. W.  |m 1058669672:Jones, David T. W.  |d 50000  |e 50000PJ1058669672  |k 0/50000/  |p 32 
998 |g 1021953024  |a Mechtersheimer, Gunhild  |m 1021953024:Mechtersheimer, Gunhild  |d 910000  |d 912000  |e 910000PM1021953024  |e 912000PM1021953024  |k 0/910000/  |k 1/910000/912000/  |p 30 
998 |g 123850215  |a Pfister, Stefan  |m 123850215:Pfister, Stefan  |d 910000  |d 910500  |e 910000PP123850215  |e 910500PP123850215  |k 0/910000/  |k 1/910000/910500/  |p 27 
998 |g 1038311837  |a Milde, Till  |m 1038311837:Milde, Till  |d 910000  |d 910500  |e 910000PM1038311837  |e 910500PM1038311837  |k 0/910000/  |k 1/910000/910500/  |p 26 
998 |g 109722810X  |a Ecker, Jonas  |m 109722810X:Ecker, Jonas  |d 910000  |d 910500  |e 910000PE109722810X  |e 910500PE109722810X  |k 0/910000/  |k 1/910000/910500/  |p 25 
998 |g 1035550709  |a Sturm, Dominik  |m 1035550709:Sturm, Dominik  |d 910000  |d 910500  |e 910000PS1035550709  |e 910500PS1035550709  |k 0/910000/  |k 1/910000/910500/  |p 24 
998 |g 119075438X  |a Hou, Yanghao  |m 119075438X:Hou, Yanghao  |d 50000  |e 50000PH119075438X  |k 0/50000/  |p 8 
998 |g 143839837  |a Reuss, David  |m 143839837:Reuss, David  |d 910000  |d 912000  |e 910000PR143839837  |e 912000PR143839837  |k 0/910000/  |k 1/910000/912000/  |p 7 
998 |g 1022852132  |a Sahm, Felix  |m 1022852132:Sahm, Felix  |d 910000  |d 912000  |e 910000PS1022852132  |e 912000PS1022852132  |k 0/910000/  |k 1/910000/912000/  |p 6 
998 |g 1063355044  |a Schrimpf, Daniel  |m 1063355044:Schrimpf, Daniel  |d 910000  |d 912000  |e 910000PS1063355044  |e 912000PS1063355044  |k 0/910000/  |k 1/910000/912000/  |p 3 
998 |g 1012485080  |a Kölsche, Christian  |m 1012485080:Kölsche, Christian  |d 910000  |d 912000  |e 910000PK1012485080  |e 912000PK1012485080  |k 0/910000/  |k 1/910000/912000/  |p 1  |x j 
999 |a KXP-PPN1683960343  |e 3555521616 
BIB |a Y 
SER |a journal 
JSO |a {"relHost":[{"pubHistory":["1.1961/62 -"],"origin":[{"publisherPlace":"Berlin ; Heidelberg","dateIssuedKey":"1961","dateIssuedDisp":"1961-","publisher":"Springer"}],"title":[{"title_sort":"Acta neuropathologica","title":"Acta neuropathologica"}],"part":{"volume":"136","year":"2018","text":"136(2018), 2, Seite 327-337","extent":"11","issue":"2","pages":"327-337"},"id":{"zdb":["1458410-4"],"eki":["253389666"],"issn":["1432-0533"]},"note":["Gesehen am 02.12.2005"],"language":["eng","ger"],"type":{"media":"Online-Ressource","bibl":"periodical"},"recId":"253389666","physDesc":[{"extent":"Online-Ressource"}],"disp":"Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutationsActa neuropathologica"}],"person":[{"display":"Kölsche, Christian","role":"aut","given":"Christian","family":"Kölsche"},{"display":"Schrimpf, Daniel","given":"Daniel","role":"aut","family":"Schrimpf"},{"display":"Sahm, Felix","family":"Sahm","role":"aut","given":"Felix"},{"display":"Reuss, David","given":"David","role":"aut","family":"Reuss"},{"family":"Hou","given":"Yanghao","role":"aut","display":"Hou, Yanghao"},{"family":"Sturm","given":"Dominik","role":"aut","display":"Sturm, Dominik"},{"display":"Ecker, Jonas","given":"Jonas","role":"aut","family":"Ecker"},{"role":"aut","given":"Till","family":"Milde","display":"Milde, Till"},{"display":"Pfister, Stefan","family":"Pfister","role":"aut","given":"Stefan"},{"display":"Mechtersheimer, Gunhild","role":"aut","given":"Gunhild","family":"Mechtersheimer"},{"display":"Jones, David T. W.","family":"Jones","given":"David T. W.","role":"aut"},{"given":"Andreas von","role":"aut","family":"Deimling","display":"Deimling, Andreas von"}],"origin":[{"dateIssuedKey":"2018","dateIssuedDisp":"7 June 2018"}],"note":["Gesehen am 02.12.2019"],"language":["eng"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"title":[{"title":"Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations","title_sort":"Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations"}],"physDesc":[{"extent":"11 S."}],"recId":"1683960343","name":{"displayForm":["Christian Koelsche, Martin Mynarek, Daniel Schrimpf, Luca Bertero, Jonathan Serrano, Felix Sahm, David E. Reuss, Yanghao Hou, Daniel Baumhoer, Christian Vokuhl, Uta Flucke, Iver Petersen, Wolfgang Brück, Stefan Rutkowski, Sandro Casavilca Zambrano, Juan Luis Garcia Leon, Rosdali Yesenia Diaz Coronado, Manfred Gessler, Oscar M. Tirado, Jaume Mora, Javier Alonso, Xavier Garcia del Muro, Manel Esteller, Dominik Sturm, Jonas Ecker, Till Milde, Stefan M. Pfister, Andrey Korshunov, Matija Snuderl, Gunhild Mechtersheimer, Ulrich Schüller, David T. W. Jones, Andreas von Deimling"]},"id":{"doi":["10.1007/s00401-018-1871-6"],"eki":["1683960343"]}} 
SRT |a KOELSCHECHPRIMARYINT7201