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001-es BibID:	BIBFORM077121
Első szerző:	Cavalli, Florence M. G.
Cím:	Heterogeneity within the PF-EPN-B ependymoma subgroup / Florence M. G. Cavalli, Jens-Martin Hübner, Tanvi Sharma, Betty Luu, Martin Sill, Michal Zapotocky, Stephen C. Mack, Hendrik Witt, Tong Lin, David J. H. Shih, Ben Ho, Mariarita Santi, Lyndsey Emery, Juliette Hukin, Christopher Dunham, Roger E. McLendon, Eric S. Lipp, Sridharan Gururangan, Andrew Grossbach, Pim French, Johan M. Kros, Marie-Lise C. van Veelen, Amulya A. Nageswara Rao, Caterina Giannini, Sarah Leary, Shin Jung, Claudia C. Faria, Jaume Mora, Ulrich Schüller, Marta M. Alonso, Jennifer A. Chan, Almos Klekner, Lola B. Chambless, Eugene I. Hwang, Maura Massimino, Charles G. Eberhart, Matthias A. Karajannis, Benjamin Lu, Linda M. Liau, Massimo Zollo, Veronica Ferrucci, Carlos Carlotti, Daniela P. C. Tirapelli, Uri Tabori, Eric Bouffet, Marina Ryzhova, David W. Ellison, Thomas E. Merchant, Mark R. Gilbert, Terri S. Armstrong, Andrey Korshunov, Stefan M. Pfister, Michael D. Taylor, Kenneth Aldape, Kristian W. Pajtler, Marcel Kool, Vijay Ramaswamy
Dátum:	2018
Megjegyzések:	Posterior fossa ependymoma comprise three distinct molecular variants, termed PF-EPN-A (PFA), PF-EPN-B (PFB), and PF-EPN-SE (subependymoma). Clinically, they are very disparate and PFB tumors are currently being considered for a trial of radiation avoidance. However, to move forward, unraveling the heterogeneity within PFB would be highly desirable. To discern the molecular heterogeneity within PFB, we performed an integrated analysis consisting of DNA methylation profiling, copy-number profiling, gene expression profiling, and clinical correlation across a cohort of 212 primary posterior fossa PFB tumors. Unsupervised spectral clustering and t-SNE analysis of genome-wide methylation data revealed five distinct subtypes of PFB tumors, termed PFB1-5, with distinct demographics, copy-number alterations, and gene expression profiles. All PFB subtypes were distinct from PFA and posterior fossa subependymomas. Of the five subtypes, PFB4 and PFB5 are more discrete, consisting of younger and older patients, respectively, with a strong female-gender enrichment in PFB5 (age: p = 0.011, gender: p = 0.04). Broad copy-number aberrations were common; however, many events such as chromosome 2 loss, 5 gain, and 17 loss were enriched in specific subtypes and 1q gain was enriched in PFB1. Late relapses were common across all five subtypes, but deaths were uncommon and present in only two subtypes (PFB1 and PFB3). Unlike the case in PFA ependymoma, 1q gain was not a robust marker of poor progression-free survival; however, chromosome 13q loss may represent a novel marker for risk stratification across the spectrum of PFB subtypes. Similar to PFA ependymoma, there exists a significant intertumoral heterogeneity within PFB, with distinct molecular subtypes identified. Even when accounting for this heterogeneity, extent of resection remains the strongest predictor of poor outcome. However, this biological heterogeneity must be accounted for in future preclinical modeling and personalized therapies.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Acta Neuropathologica. - 136 : 2 (2018), p. 227-237. -
További szerzők:	Hübner, Jens-Martin Sharma, Tanvy Luu, Betty Sill, Martin Zapotocky, Michal Mack, Stephen Witt, Hendrik Lin, Tong Shih, David J. H. Ho, Ben Santi, Mariarita Emery, Lyndsey Hukin, Juliette Dunham, Christopher P. McLendon, Roger E. Lipp, Eric S. Gururangan, Sridharan Grossbach, Andrew French, Pim J. Kros, Johan M. van Veelen, Marie-Lise C. Rao, Amulya A. Nageswara Giannini, Caterina Leary, Sarah Jung, Shin Faria, Claudia C. Mora, Jaume Schüller, Ulrich Alonso, Marta M. Chan, Jennifer A. Klekner Álmos (1970-) (idegsebész) Chambless, Lola B. Hwang, Eugene Massimino, Maura Eberhart, Charles G. Karajannis, Matthias A. Lu, Benjamin Liau, Linda M. Zollo, Massimo Ferrucci, Veronica Carlotti, Carlos G. Tirapelli, Daniela P. C. Tabori, Uri Bouffet, Eric Ryzhova, Marina Ellison, David W. Merchant, Thomas E. Gilbert, Mark R. Armstrong, Terri S. Korshunov, Andrey Pfister, Stefan M. Taylor, Michael D. Aldape, Kenneth Pajtler, Kristian W. Kool, Marcel Ramaswamy, Vijay
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001-es BibID:	BIBFORM089591
035-os BibID:	(WoS)000597929400015 (Scopus)85097741684
Első szerző:	Chen, Carol C. L.
Cím:	Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis / Chen Carol C. L., Deshmukh Shriya, Jessa Selin, Hadjadj Djihad, Lisi Véronique, Andrade Augusto Faria, Faury Damien, Jawhar Wajih, Dali Rola, Suzuki Hiromichi, Pathania Manav, A Deli, Dubois Frank, Woodward Eleanor, Hébert Steven, Coutelier Marie, Karamchandani Jason, Albrecht Steffen, Brandner Sebastian, De Jay Nicolas, Gayden Tenzin, Bajic Andrea, Harutyunyan Ashot S., Marchione Dylan M., Mikael Leonie G., Juretic Nikoleta, Zeinieh Michele, Russo Caterina, Maestro Nicola, Bassenden Angelia V., Hauser Peter, Virga József, Bognar Laszlo, Klekner Almos, Zapotocky Michal, Vicha Ales, Krskova Lenka, Vanova Katerina, Zamecnik Josef, Sumerauer David, Ekert Paul G., Ziegler David S., Ellezam Benjamin, Filbin Mariella G., Blanchette Mathieu, Hansford Jordan R., Khuong-Quang Dong-Anh, Berghuis Albert M., Weil Alexander G., Garcia Benjamin A., Garzia Livia, Mack Stephen C., Beroukhim Rameen, Ligon Keith L., Taylor Michael D., Bandopadhayay Pratiti, Kramm Christoph, Pfister Stefan M., Korshunov Andrey, Sturm Dominik, Jones David T. W., Salomoni Paolo, Kleinman Claudia L., Jabado Nada
Dátum:	2020
ISSN:	0092-8674
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Cell. - 183 (2020), p. 1617-1633.e22. -
További szerzők:	Deshmukh, Shriya Jessa, Selin Hadjadj, Djihad Lisi, Véronique Andrade, Augusto Faria Faury, Damien Jawhar, Wajih Dali, Rola Suzuki, Hiromichi Pathania, Manav A, Deli Dubois, Frank Woodward, Eleanor Hébert, Steven Coutelier, Marie Karamchandani, Jason Albrecht, Stephen Brandner, Sebastian De Jay, Nicolas Gayden, Tenzin Bajic, Andrea Harutyunyan, Ashot S. Marchione, Dylan M. Mikael, Leonie G. Juretic, Nikoleta Zeinieh, Michele Russo, Caterina Maestro, Nicola Bassenden, Angelia V. Hauser, Peter Virga József (1989-) Bognár László (1958-) (idegsebész, gyermekidegsebész) Klekner Álmos (1970-) (idegsebész) Zapotocky, Michal Vicha, Ales Krskova, Lenka Vanova, Katerina Zamecnik, Josef Sumerauer, David Ekert, Paul G. Ziegler, David S. Ellezam, Benjamin Filbin, Mariella G. Blanchette, Mathieu Hansford, Jordan R. Khuong-Quang, Dong-Anh Berghuis, Albert M. Weil, Alexander G. Garcia, Benjamin A. Garzia, Livia Mack, Stephen Beroukhim, Rameen Ligon, Keith L. Taylor, Michael D. Bandopadhayay, Pratiti Kramm, Christoph Pfister, Stefan M. Korshunov, Andrey Sturm, Dominik Jones, David T. W. Salomoni, Paolo Kleinman, Claudia L. Jabado, Nada
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