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1. Flow cytometry identifies changes in peripheral and intrathecal lymphocyte patterns in CNS autoimmune disorders and primary CNS malignancies

Author

Räuber, Saskia, Schulte-Mecklenbeck, Andreas, Willison, Alice, Hagler, Ramona, Jonas, Marius, Pul, Duygu, Masanneck, Lars, Schroeter, Christina B., Golombeck, Kristin S., Lichtenberg, Stefanie, Strippel, Christine, Gallus, Marco, Dik, Andre, Kerkhoff, Ruth, Barman, Sumanta, Weber, Katharina J., Kovac, Stjepana, Korsen, Melanie, Pawlitzki, Marc, Goebels, Norbert, Ruck, Tobias, Gross, Catharina C., Paulus, Werner, Reifenberger, Guido, Hanke, Michael, Grauer, Oliver, Rapp, Marion, Sabel, Michael, Wiendl, Heinz, Meuth, Sven G., and Melzer, Nico

Published
2024
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7. Genetic and epigenetic characterization of posterior pituitary tumors

Author

Schmid, Simone, Solomon, David A, Perez, Eilis, Thieme, Anne, Kleinschmidt-DeMasters, Bette K, Giannini, Caterina, Reinhardt, Annekathrin, Asa, Sylvia L, Mete, Ozgur, Stichel, Damian, Siewert, Christin, Dittmayer, Carsten, Hasselblatt, Martin, Paulus, Werner, Nagel, Christoph, Harter, Patrick N, Schittenhelm, Jens, Honegger, Jürgen, Rushing, Elisabeth, Coras, Roland, Pfister, Stefan M, Buslei, Rolf, Koch, Arend, Perry, Arie, Jones, David TW, von Deimling, Andreas, Capper, David, and Lopes, M Beatriz

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Human Genome, Cancer, Aetiology, 2.1 Biological and endogenous factors, Adenoma, Oxyphilic, Epigenesis, Genetic, Granular Cell Tumor, Humans, Pituitary Neoplasms, Pituicytoma, Spindle cell oncocytoma, Granular cell tumor, Posterior pituitary gland neoplasms, Molecular neuropathology, Brain tumor, Clinical Sciences, Neurosciences, Neurology & Neurosurgery
Abstract

Pituicytoma (PITUI), granular cell tumor (GCT), and spindle cell oncocytoma (SCO) are rare tumors of the posterior pituitary. Histologically, they may be challenging to distinguish and have been proposed to represent a histological spectrum of a single entity. We performed targeted next-generation sequencing, DNA methylation profiling, and copy number analysis on 47 tumors (14 PITUI; 12 GCT; 21 SCO) to investigate molecular features and explore possibilities of clinically meaningful tumor subclassification. We detected two main epigenomic subgroups by unsupervised clustering of DNA methylation data, though the overall methylation differences were subtle. The largest group (n = 23) contained most PITUIs and a subset of SCOs and was enriched for pathogenic mutations within genes in the MAPK/PI3K pathways (12/17 [71%] of sequenced tumors: FGFR1 (3), HRAS (3), BRAF (2), NF1 (2), CBL (1), MAP2K2 (1), PTEN (1)) and two with accompanying TERT promoter mutation. The second group (n = 16) contained most GCTs and a subset of SCOs, all of which mostly lacked identifiable genetic drivers. Outcome analysis demonstrated that the presence of chromosomal imbalances was significantly associated with reduced progression-free survival especially within the combined PITUI and SCO group (p = 0.031). In summary, we observed only subtle DNA methylation differences between posterior pituitary tumors, indicating that these tumors may be best classified as subtypes of a single entity. Nevertheless, our data indicate differences in mutation patterns and clinical outcome. For a clinically meaningful subclassification, we propose a combined histo-molecular approach into three subtypes: one subtype is defined by granular cell histology, scarcity of identifiable oncogenic mutations, and favorable outcome. The other two subtypes have either SCO or PITUI histology but are segregated by chromosomal copy number profile into a favorable group (no copy number changes) and a less favorable group (copy number imbalances present). Both of the latter groups have recurrent MAPK/PI3K genetic alterations that represent potential therapeutic targets.

Published
2021

8. Structural disorder and magnetic correlations driven by oxygen doping in Nd2NiO4+d (d ~ 0.11)

Author

Maity, Sumit Ranjan, Ceretti, Monica, Keller, Lukas, Schefer, Jürg, Shang, Tian, Pomjakushina, Ekaterina, Meven, Martin, Sheptyakov, Denis, Cervellino, Antonio, and Paulus, Werner

Subjects
Condensed Matter - Materials Science
Abstract

We investigated the influence of oxygen over-stoichiometry on apical oxygen disorder and magnetic correlations in Nd2NiO4+d (d~0.11) in the temperature range of 2-300 K by means of synchrotron x-ray powder diffraction, neutron single crystal and powder diffraction studies, combined with macroscopic magnetic measurements. In the investigated temperature range, the compound crystalizes in a tetragonal commensurate structure with the P42/ncm space group with excess oxygen atoms occupy the 4b (3/4 1/4 1/4) interstitial sites, coordinated by four apical oxygen atoms. Large and anisotropic thermal displacement parameters are found for equatorial and apical oxygen atoms, which are strongly reduced on an absolute scale compared to the Nd2NiO4.23 phase. Maximum Entropy analysis of the neutron single crystal diffraction data uncovered anharmonic contributions to the displacement parameters of the apical oxygen atoms, toward the nearest vacant 4b interstitial site, related to the phonon assisted oxygen diffusion mechanism. Macroscopic magnetization measurements and neutron powder diffraction studies reveal long-range antiferromagnetic ordering of the Ni-sublattice at TN ~ 53 K with a weak ferromagnetic component along the c-axis, while the long-range magnetic ordering of the Nd-sublattice occurs below 10 K. Temperature dependent neutron diffraction patterns show the appearance of a commensurate magnetic order at TN with the propagation vector k = (100) and the emergence of an additional incommensurate phase below 30 K, while both phases coexist at 2 K. The commensurate magnetic structure is best described by the P42/nc`m` Shubnikov space group. Refined magnetic moments of the Ni and Nd-sites at 2 K are 1.144(76) muB and 1.632(52) muB respectively. A possible origin of the incommensurate phase is discussed and a tentative magnetic phase diagram is proposed.

Published
2021
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9. Interdependent scaling of long-range oxygen and magnetic ordering in non-stoichiometric Nd${}_2$NiO${}_{4.10}$

Author

Maity, Sumit Ranjan, Ceretti, Monica, Keller, Lukas, Schefer, Jürg, Meven, Martin, Pomjakushina, Ekaterina, and Paulus, Werner

Subjects
Physics - Applied Physics, Condensed Matter - Disordered Systems and Neural Networks, Condensed Matter - Materials Science
Abstract

Hole doping in Nd${}_{2}$NiO${}_{4.00}$ can be either achieved by substituting the trivalent Nd atoms by bivalent alkaline earth metals or by oxygen doping, yielding Nd${}_{2}$NiO${}_{4+\delta}$. In this study, we investigated the interplay between oxygen and spin ordering for a low oxygen doping concentration i.e. Nd${}_{2}$NiO${}_{4.10}$. Although the extra oxygen doping level remains rather modest with only one out of 20 possible interstitial tetrahedral lattice sites occupied, we observed by single crystal neutron diffraction the presence of a complex 3D modulated structure related to oxygen ordering already at ambient, the modulation vectors being $\pm$2/13\textit{\textbf{a*}}$\pm$3/13\textit{\textbf{b*}}, $\pm$3/13\textit{\textbf{b*}}$\pm$2/13\textit{\textbf{b*}} and $\pm$1/5\textit{\textbf{a*}}$\pm$1/2\textit{\textbf{c*}} and satellite reflections up to fourth order. Temperature dependent neutron diffraction studies indicate the coexistence of oxygen and magnetic ordering below T${}_{N}$ $\simeq$ 48 K, the wave vector of the Ni sublattice being \textbf{\textit{k}}=(100). In addition, magnetic satellite reflections adapt exactly the same modulation vectors as found for the oxygen ordering, evidencing a unique coexistence of 3D modulated ordering for spin and oxygen ordering in Nd${}_{2}$NiO${}_{4.10}$. Temperature dependent measurements of magnetic intensities suggest two magnetic phase transitions below 48 K and 20 K, indicating two distinct onsets of magnetic ordering for the Ni and Nd sublattice, respectively., Comment: 9 pages, 5 figures, supplemetary material linked in the paper

Published
2021
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10. A Novel Type of IDH-wildtype Glioma Characterized by Gliomatosis Cerebri-like Growth Pattern, TERT Promoter Mutation, and Distinct Epigenetic Profile

Author

Muench, Amos, Teichmann, Daniel, Spille, Dorothee, Kuzman, Peter, Perez, Eilis, May, Sven-Axel, Mueller, Wolf C., Kombos, Theodoros, Nazari-Dehkordi, Shokufe, Onken, Julia, Vajkoczy, Peter, Ntoulias, Georgios, Bettencourt, Conceição, von Deimling, Andreas, Paulus, Werner, Heppner, Frank L., Koch, Arend, Capper, David, Kaul, David, Thomas, Christian, and Schweizer, Leonille

Published
2023
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11. cIMPACT‐NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT‐Utrecht meeting on future CNS tumor classification and grading

Author

Louis, David N, Wesseling, Pieter, Aldape, Kenneth, Brat, Daniel J, Capper, David, Cree, Ian A, Eberhart, Charles, Figarella‐Branger, Dominique, Fouladi, Maryam, Fuller, Gregory N, Giannini, Caterina, Haberler, Christine, Hawkins, Cynthia, Komori, Takashi, Kros, Johan M, Ng, HK, Orr, Brent A, Park, Sung‐Hye, Paulus, Werner, Perry, Arie, Pietsch, Torsten, Reifenberger, Guido, Rosenblum, Marc, Rous, Brian, Sahm, Felix, Sarkar, Chitra, Solomon, David A, Tabori, Uri, Bent, Martin J, Deimling, Andreas, Weller, Michael, White, Valerie A, and Ellison, David W

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Rare Diseases, Central Nervous System Neoplasms, Humans, Neoplasm Grading, brain tumors, central nervous system, classification, neoplasms, Clinical Sciences, Neurosciences, Neurology & Neurosurgery, Clinical sciences
Abstract

cIMPACT-NOW (the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy) was established to evaluate and make practical recommendations on recent advances in the field of CNS tumor classification, particularly in light of the rapid progress in molecular insights into these neoplasms. For Round 2 of its deliberations, cIMPACT-NOW Working Committee 3 was reconstituted and convened in Utrecht, The Netherlands, for a meeting designed to review putative new CNS tumor types in advance of any future World Health Organization meeting on CNS tumor classification. In preparatory activities for the meeting and at the actual meeting, a list of possible entities was assembled and each type and subtype debated. Working Committee 3 recommended that a substantial number of newly recognized types and subtypes should be considered for inclusion in future CNS tumor classifications. In addition, the group endorsed a number of principles-relating to classification categories, approaches to classification, nomenclature, and grading-that the group hopes will also inform the future classification of CNS neoplasms.

Published
2020

12. Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex

Author

Bongaarts, Anika, Mijnsbergen, Caroline, Anink, Jasper J., Jansen, Floor E., Spliet, Wim G. M., den Dunnen, Wilfred F. A., Coras, Roland, Blümcke, Ingmar, Paulus, Werner, Gruber, Victoria E., Scholl, Theresa, Hainfellner, Johannes A., Feucht, Martha, Kotulska, Katarzyna, Jozwiak, Sergiusz, Grajkowska, Wieslawa, Buccoliero, Anna Maria, Caporalini, Chiara, Giordano, Flavio, Genitori, Lorenzo, Söylemezoğlu, Figen, Pimentel, José, Jones, David T. W., Scicluna, Brendon P., Schouten-van Meeteren, Antoinette Y. N., Mühlebner, Angelika, Mills, James D., and Aronica, Eleonora

Published
2022
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15. ATRT–SHH comprises three molecular subgroups with characteristic clinical and histopathological features and prognostic significance

Author

Federico, Aniello, Thomas, Christian, Miskiewicz, Katarzyna, Woltering, Niklas, Zin, Francesca, Nemes, Karolina, Bison, Brigitte, Johann, Pascal D., Hawes, Debra, Bens, Susanne, Kordes, Uwe, Albrecht, Steffen, Dohmen, Hildegard, Hauser, Peter, Keyvani, Kathy, van Landeghem, Frank K. H., Lund, Eva Løbner, Scheie, David, Mawrin, Christian, Monoranu, Camelia-Maria, Parm Ulhøi, Benedicte, Pietsch, Torsten, Reinhard, Harald, Riemenschneider, Markus J., Sehested, Astrid, Sumerauer, David, Siebert, Reiner, Paulus, Werner, Frühwald, Michael C., Kool, Marcel, and Hasselblatt, Martin

Published
2022
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16. cIMPACT-NOW: a practical summary of diagnostic points from Round 1 updates.

Author

Louis, David N, Ellison, David W, Brat, Daniel J, Aldape, Kenneth, Capper, David, Hawkins, Cynthia, Paulus, Werner, Perry, Arie, Reifenberger, Guido, Figarella-Branger, Dominique, von Deimling, Andreas, and Wesseling, Pieter

Subjects
Humans, Central Nervous System Neoplasms, Brain Neoplasms, Neuropathology, Brain Cancer, Brain Disorders, Neurosciences, Rare Diseases, Cancer, Clinical Sciences, Neurology & Neurosurgery
Abstract

cIMPACT-NOW (the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy) was established to provide a forum to evaluate and recommend proposed changes to future CNS tumor classifications. From 2016 to 2019 (Round 1), cIMPACT published four updates. Update 1 clarified the use of the term NOS (Not Otherwise Specified) and proposed use of the additional term NEC (Not Elsewhere Classified). Update 2 issued clarifications regarding two diagnoses: Diffuse Midline Glioma, H3 K27M-mutant and Diffuse Astrocytoma/Anaplastic Astrocytoma, IDH-mutant. Update 3 proposed molecular criteria that could be used in the setting of an IDH-wildtype diffuse or anaplastic astrocytic glioma without histological features of glioblastoma to infer that the tumor would behave similarly to a grade IV glioblastoma. Update 4 suggested that, in children and young adults, subtypes of IDH-wildtype/H3-wildtype diffuse gliomas may have distinct clinical features in the setting of a BRAFV600E mutation, FGFR1 alteration, other MAPK pathway alteration, or a MYB or MYBL1 rearrangement. The practical diagnostic relevance of these cIMPACT proposals is highlighted in this summary.

Published
2019

18. DNA methylation-based classification of sinonasal tumors

Author

Jurmeister, Philipp, Glöß, Stefanie, Roller, Renée, Leitheiser, Maximilian, Schmid, Simone, Mochmann, Liliana H., Payá Capilla, Emma, Fritz, Rebecca, Dittmayer, Carsten, Friedrich, Corinna, Thieme, Anne, Keyl, Philipp, Jarosch, Armin, Schallenberg, Simon, Bläker, Hendrik, Hoffmann, Inga, Vollbrecht, Claudia, Lehmann, Annika, Hummel, Michael, Heim, Daniel, Haji, Mohamed, Harter, Patrick, Englert, Benjamin, Frank, Stephan, Hench, Jürgen, Paulus, Werner, Hasselblatt, Martin, Hartmann, Wolfgang, Dohmen, Hildegard, Keber, Ursula, Jank, Paul, Denkert, Carsten, Stadelmann, Christine, Bremmer, Felix, Richter, Annika, Wefers, Annika, Ribbat-Idel, Julika, Perner, Sven, Idel, Christian, Chiariotti, Lorenzo, Della Monica, Rosa, Marinelli, Alfredo, Schüller, Ulrich, Bockmayr, Michael, Liu, Jacklyn, Lund, Valerie J., Forster, Martin, Lechner, Matt, Lorenzo-Guerra, Sara L., Hermsen, Mario, Johann, Pascal D., Agaimy, Abbas, Seegerer, Philipp, Koch, Arend, Heppner, Frank, Pfister, Stefan M., Jones, David T. W., Sill, Martin, von Deimling, Andreas, Snuderl, Matija, Müller, Klaus-Robert, Forgó, Erna, Howitt, Brooke E., Mertins, Philipp, Klauschen, Frederick, and Capper, David

Published
2022
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19. Pleomorphic xanthoastrocytoma is a heterogeneous entity with pTERT mutations prognosticating shorter survival

Author

Ebrahimi, Azadeh, Korshunov, Andrey, Reifenberger, Guido, Capper, David, Felsberg, Joerg, Trisolini, Elena, Pollo, Bianca, Calatozzolo, Chiara, Prinz, Marco, Staszewski, Ori, Schweizer, Leonille, Schittenhelm, Jens, Harter, Patrick N., Paulus, Werner, Thomas, Christian, Kohlhof-Meinecke, Patricia, Seiz-Rosenhagen, Marcel, Milde, Till, Casalini, Belén M., Suwala, Abigail, Wefers, Annika K., Reinhardt, Annekathrin, Sievers, Philipp, Kramm, Christof M., Etminam, Nima, Unterberg, Andreas, Wick, Wolfgang, Herold-Mende, Christel, Sturm, Dominik, Pfister, Stefan M., Sill, Martin, Jones, David T. W., Schrimpf, Daniel, Reuss, David E., Aldape, Ken, Abdullaev, Zied, Sahm, Felix, von Deimling, Andreas, and Stichel, Damian

Published
2022
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22. Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors

Author

Pathak, Rajiv, Zin, Francesca, Thomas, Christian, Bens, Susanne, Gayden, Tenzin, Karamchandani, Jason, Dudley, Roy W., Nemes, Karolina, Johann, Pascal D., Oyen, Florian, Kordes, Uwe, Jabado, Nada, Siebert, Reiner, Paulus, Werner, Kool, Marcel, Frühwald, Michael C., Albrecht, Steffen, Kalpana, Ganjam V., and Hasselblatt, Martin

Published
2021
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23. TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma

Author

Thomas, Christian, Thierfelder, Felix, Träger, Malte, Soschinski, Patrick, Müther, Michael, Edelmann, Dominic, Förster, Alexandra, Geiler, Carola, Kim, Hee-yeong, Filipski, Katharina, Harter, Patrick N., Schittenhelm, Jens, Eckert, Franziska, Ntoulias, Georgios, May, Sven-Axel, Stummer, Walter, Onken, Julia, Vajkoczy, Peter, Schüller, Ulrich, Heppner, Frank L., Capper, David, Koch, Arend, Kaul, David, Paulus, Werner, Hasselblatt, Martin, and Schweizer, Leonille

Published
2021
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28. Does 5-ALA Fluorescence Microscopy Improve Complete Resectability in Cerebral/Cerebellar Metastatic Surgery? A Retrospective Data Analysis from a Cranial Center.

Author

Sarkis, Hraq Mourad, Zawy Alsofy, Samer, Stroop, Ralf, Lewitz, Marc, Schipmann, Stephanie, Unnewehr, Markus, Paulus, Werner, Nakamura, Makoto, and Ewelt, Christian

Subjects
FLUORESCENT dyes, ADENOCARCINOMA, POSTOPERATIVE care, GASTROINTESTINAL tumors, SQUAMOUS cell carcinoma, MICROSURGERY, ACADEMIC medical centers, T-test (Statistics), MELANOMA, SURVIVAL rate, BREAST tumors, KARNOFSKY Performance Status, GIANT cell tumors, SURGICAL therapeutics, MAGNETIC resonance imaging, CANCER patients, CHI-squared test, RETROSPECTIVE studies, METASTASECTOMY, METASTASIS, IMMUNOHISTOCHEMISTRY, KAPLAN-Meier estimator, LOG-rank test, POSTOPERATIVE period, DATA analysis software, SMALL cell carcinoma, PROGRESSION-free survival, CONFIDENCE intervals, BRAIN tumors, PATIENT aftercare, BRONCHIAL tumors, OVERALL survival
Abstract

Simple Summary: In the present study, the intraoperative fluorescence of brain metastases after the administration of 5-aminolevulinic acid (5-ALA) is investigated in 80 cases. Brain metastases fluoresced in 57.5% of cases, with no significant correlation between fluorescence and primary tumor or histological subtype. Complete resection of brain metastases was detected in 82.5%, of which 56.1% were fluorescence positive, compared to 43.9% which were non-fluorescent. Thus, prior administration of 5-ALA tended to improve the resectability rate by 12.1%. Fluorescence-positive and -negative metastases showed significantly different overall survival in this study. Therefore, administration of 5-ALA as a surgical adjuvant may be beneficial in resecting brain metastases and may potentially optimize the surgical procedure. (1) Background: In this study, the intraoperative fluorescence behavior of brain metastases after the administration of 5-aminolevulinic acid (5-ALA) was analyzed. The aim was to investigate whether the resection of brain metastases using 5-ALA fluorescence also leads to a more complete resections and thus to a prolongation of survival; (2) Methods: The following variables have been considered: age, sex, number of metastases, localization, involvement of eloquent area, correlation between fluorescence and primary tumor/subtype, resection, and survival time. The influence on the degree of resection was determined with a control MRI within the first three postoperative days; (3) Results: Brain metastases fluoresced in 57.5% of cases. The highest fluorescence rates of 73.3% were found in breast carcinoma metastases and the histologic subtype adenocarcinoma (68.1%). No correlation between fluorescence behavior and localization, primary tumor, or histological subtype was found. Complete resection was detected in 82.5%, of which 56.1% were fluorescence positive. There was a trend towards improved resectability (increase of 12.1%) and a significantly longer survival time (p = 0.009) in the fluorescence-positive group; (4) Conclusions: 5-ALA-assisted extirpation leads to a more complete resection and longer survival and can therefore represent a low-risk addition to modern surgery for brain metastases. [ABSTRACT FROM AUTHOR]

Published
2024
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31. Sarcoma classification by DNA methylation profiling

Author

Koelsche, Christian, Schrimpf, Daniel, Stichel, Damian, Sill, Martin, Sahm, Felix, Reuss, David E., Blattner, Mirjam, Worst, Barbara, Heilig, Christoph E., Beck, Katja, Horak, Peter, Kreutzfeldt, Simon, Paff, Elke, Stark, Sebastian, Johann, Pascal, Selt, Florian, Ecker, Jonas, Sturm, Dominik, Pajtler, Kristian W., Reinhardt, Annekathrin, Wefers, Annika K., Sievers, Philipp, Ebrahimi, Azadeh, Suwala, Abigail, Fernández-Klett, Francisco, Casalini, Belén, Korshunov, Andrey, Hovestadt, Volker, Kommoss, Felix K. F., Kriegsmann, Mark, Schick, Matthias, Bewerunge-Hudler, Melanie, Milde, Till, Witt, Olaf, Kulozik, Andreas E., Kool, Marcel, Romero-Pérez, Laura, Grünewald, Thomas G. P., Kirchner, Thomas, Wick, Wolfgang, Platten, Michael, Unterberg, Andreas, Uhl, Matthias, Abdollahi, Amir, Debus, Jürgen, Lehner, Burkhard, Thomas, Christian, Hasselblatt, Martin, Paulus, Werner, Hartmann, Christian, Staszewski, Ori, Prinz, Marco, Hench, Jürgen, Frank, Stephan, Versleijen-Jonkers, Yvonne M. H., Weidema, Marije E., Mentzel, Thomas, Griewank, Klaus, de Álava, Enrique, Martín, Juan Díaz, Gastearena, Miguel A. Idoate, Chang, Kenneth Tou-En, Low, Sharon Yin Yee, Cuevas-Bourdier, Adrian, Mittelbronn, Michel, Mynarek, Martin, Rutkowski, Stefan, Schüller, Ulrich, Mautner, Viktor F., Schittenhelm, Jens, Serrano, Jonathan, Snuderl, Matija, Büttner, Reinhard, Klingebiel, Thomas, Buslei, Rolf, Gessler, Manfred, Wesseling, Pieter, Dinjens, Winand N. M., Brandner, Sebastian, Jaunmuktane, Zane, Lyskjær, Iben, Schirmacher, Peter, Stenzinger, Albrecht, Brors, Benedikt, Glimm, Hanno, Heining, Christoph, Tirado, Oscar M., Sáinz-Jaspeado, Miguel, Mora, Jaume, Alonso, Javier, del Muro, Xavier Garcia, Moran, Sebastian, Esteller, Manel, Benhamida, Jamal K., Ladanyi, Marc, Wardelmann, Eva, Antonescu, Cristina, Flanagan, Adrienne, Dirksen, Uta, Hohenberger, Peter, Baumhoer, Daniel, Hartmann, Wolfgang, Vokuhl, Christian, Flucke, Uta, Petersen, Iver, Mechtersheimer, Gunhild, Capper, David, Jones, David T. W., Fröhling, Stefan, Pfister, Stefan M., and von Deimling, Andreas

Published
2021
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32. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

Author

Rivera, Barbara, Nadaf, Javad, Fahiminiya, Somayyeh, Apellaniz-Ruiz, Maria, Saskin, Avi, Chong, Anne-Sophie, Sharma, Sahil, Wagener, Rabea, Revil, Timothee, Condello, Vincenzo, Harra, Zineb, Hamel, Nancy, Sabbaghian, Nelly, Muchantef, Karl, Thomas, Christian, de Kock, Leanne, Hebert-Blouin, Marie- Noelle, Bassenden, Angelia V., Rabenstein, Hannah, Mete, Ozgur, Paschke, Ralf, Pusztaszeri, Marc P., Paulus, Werner, Berghuis, Albert, Ragoussis, Jiannis, Nikiforov, Yuri E., Turcotte, Reiner SieberSteffen Albrech Robert, Fabian, Martin Hasselblat Marc R., and Foulkes, William D.

Subjects
Thyroid cancer -- Genetic aspects -- Comparative analysis, MicroRNA -- Comparative analysis, Disease susceptibility -- Genetic aspects -- Comparative analysis, Goiter -- Genetic aspects -- Comparative analysis, Genomics -- Comparative analysis, Messenger RNA, Criminal investigation, Genetics, Biosynthesis, Childhood, Cancer, Childhood cancer, Tumors, Pediatrics, Diseases, Genes, Genomes, Thyroid diseases, Research institutes, RNA, Banking industry, Health care industry
Abstract

BACKGROUND. DICER1 is the only miRNA biogenesis component associated with an inherited tumor syndrome, featuring multinodular goiter (MNG) and rare pediatric-onset lesions. Other susceptibility genes for familial forms of MNG likely exist. METHODS. Whole-exome sequencing of a kindred with early-onset MNG and schwannomatosis was followed by investigation of germline pathogenic variants that fully segregated with the disease. Genome- wide analyses were performed on 13 tissue samples from familial and nonfamilial DGCR8-E518K-positive tumors, including MNG, schwannomas, papillary thyroid cancers (PTCs), and Wilms tumors. miRNA profiles of 4 tissue types were compared, and sequencing of miRNA, pre-miRNA, and mRNA was performed in a subset of 9 schwannomas, 4 of which harbor DGCR8- E518K. RESULTS. We identified c.1552G>A;p.E518K in DGCR8, a microprocessor component located in 22q, in the kindred. The variant identified is a somatic hotspot in Wilms tumors and has been identified in 2 PTCs. Copy number loss of chromosome 22q, leading to loss of heterozygosity at the DGCR8 locus, was found in all 13 samples harboring c.1552G>A;p. E518K. miRNA profiling of PTCs, MNG, schwannomas, and Wilms tumors revealed a common profile among E518K hemizygous tumors. In vitro cleavage demonstrated improper processing of pre- miRNA by DGCR8-E518K. MicroRNA and RNA profiling show that this variant disrupts precursor microRNA production, impacting populations of canonical microRNAs and mirtrons. CONCLUSION. We identified DGCR8 as the cause of an unreported autosomal dominant mendelian tumor susceptibility syndrome: familial multinodular goiter with schwannomatosis. FUNDING. Canadian Institutes of Health Research, Compute Canada, Alex's Lemonade Stand Foundation, the Mia Neri Foundation for Childhood Cancer, Cassa di Sovvenzioni e Risparmio fra il Personale della Banca d'Italia, and the KinderKrebslnitiative Buchholz/Holm-Seppensen., Introduction Familial multinodular goiter can occur alone or in combination with other disorders (1). An exemplar of the latter is DICER1 syndrome, attributable to germline pathogenic variants in DICER1, encoding [...]

Published
2020
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33. Data Sets for the Reporting of Tumors of the Central Nervous System: Recommendations From The International Collaboration on Cancer Reporting

Author

Louis, David N., Wesseling, Pieter, Brandner, Sebastian, Brat, Daniel J., Ellison, David W., Giangaspero, Felice, Hattab, Eyas M., Hawkins, Cynthia, Judge, Meagan J., Kleinschmidt-DeMasters, Bette, Komori, Takashi, McLean, Catriona, Paulus, Werner, Perry, Arie, Reifenberger, Guido, Weller, Michael, and Rous, Brian

Subjects
Cancer, Medical research, Epidemiology, Central nervous system, Brain tumors, Web sites (World Wide Web), Clinical trials, Health, Benchmarking, Tumors, Public health, Nervous system tumors, Health, World Health Organization
Abstract

* Context.--Standards for pathology reporting of cancer are foundational to national and international benchmarking, epidemiology, and clinical trials, with international standards for pathology reporting of cancer being undertaken through the International Collaboration on Cancer Reporting (ICCR). Objective.--To develop standardized templates for brain tumor diagnostic pathology reporting. Design.--As a response to the 2016 updated 4th edition of the WHO (World Health Organization) Classification of Tumours of the Central Nervous System (2016 CNS WHO), an expert ICCR committee developed data sets to facilitate reporting of brain tumors that are classified histologically and molecularly by the 2016 CNS WHO; as such, this represents the first combined histologic and molecular ICCR data set, and required a novel approach with 3 highly related data sets that should be used in an integrated manner. Results.--The current article and accompanying ICCR Web site describe reporting data sets for central nervous system tumors in the hope that they provide easy-to-use and highly reproducible means to issue diagnostic reports in consort with the 2016 CNS WHO. Conclusions.--The consistent use of these templates will undoubtedly prove useful for patient care, clinical trials, epidemiologic studies, and monitoring of neuro-oncologic care around the world. (Arch Pathol Lab Med. 2020;144:196-206; doi: 10.5858/arpa.2018-0565-OA), The value of a structured or synoptic approach to cancer reporting, leading to improvement in the quality and completeness of pathology cancer reports, has been recognized through many studies (1-4) [...]

Published
2020
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36. CDKN2A/B homozygous deletion is associated with early recurrence in meningiomas

Author

Sievers, Philipp, Hielscher, Thomas, Schrimpf, Daniel, Stichel, Damian, Reuss, David E., Berghoff, Anna S., Neidert, Marian C., Wirsching, Hans-Georg, Mawrin, Christian, Ketter, Ralf, Paulus, Werner, Reifenberger, Guido, Lamszus, Katrin, Westphal, Manfred, Etminan, Nima, Ratliff, Miriam, Herold-Mende, Christel, Pfister, Stefan M., Jones, David T. W., Weller, Michael, Harter, Patrick N., Wick, Wolfgang, Preusser, Matthias, von Deimling, Andreas, and Sahm, Felix

Published
2020
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37. Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults

Author

Thomas, Christian, Wefers, Annika, Bens, Susanne, Nemes, Karolina, Agaimy, Abbas, Oyen, Florian, Vogelgesang, Silke, Rodriguez, Fausto J., Brett, Francesca M., McLendon, Roger, Bodi, Istvan, Burel-Vandenbos, Fanny, Keyvani, Kathy, Tippelt, Stefan, Poulsen, Frantz R., Lipp, Eric S., Giannini, Caterina, Reifenberger, Guido, Kuchelmeister, Klaus, Pietsch, Torsten, Kordes, Uwe, Siebert, Reiner, Frühwald, Michael C., Johann, Pascal D., Sill, Martin, Kool, Marcel, von Deimling, Andreas, Paulus, Werner, and Hasselblatt, Martin

Published
2020
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38. MYCN amplification drives an aggressive form of spinal ependymoma

Author

Ghasemi, David R., Sill, Martin, Okonechnikov, Konstantin, Korshunov, Andrey, Yip, Stephen, Schutz, Peter W., Scheie, David, Kruse, Anders, Harter, Patrick N., Kastelan, Marina, Wagner, Marlies, Hartmann, Christian, Benzel, Julia, Maass, Kendra K., Khasraw, Mustafa, Sträter, Ronald, Thomas, Christian, Paulus, Werner, Kratz, Christian P., Witt, Hendrik, Kawauchi, Daisuke, Herold-Mende, Christel, Sahm, Felix, Brandner, Sebastian, Kool, Marcel, Jones, David T. W., von Deimling, Andreas, Pfister, Stefan M., Reuss, David E., and Pajtler, Kristian W.

Published
2019
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40. International Society Of Neuropathology--Haarlem consensus guidelines for nervous system tumor classification and grading.

Author

Louis, David N, Perry, Arie, Burger, Peter, Ellison, David W, Reifenberger, Guido, von Deimling, Andreas, Aldape, Kenneth, Brat, Daniel, Collins, V Peter, Eberhart, Charles, Figarella-Branger, Dominique, Fuller, Gregory N, Giangaspero, Felice, Giannini, Caterina, Hawkins, Cynthia, Kleihues, Paul, Korshunov, Andrey, Kros, Johan M, Beatriz Lopes, M, Ng, Ho-Keung, Ohgaki, Hiroko, Paulus, Werner, Pietsch, Torsten, Rosenblum, Marc, Rushing, Elisabeth, Soylemezoglu, Figen, Wiestler, Otmar, Wesseling, Pieter, and International Society Of Neuropathology--Haarlem

Subjects
International Society Of Neuropathology--Haarlem, Humans, Nervous System Neoplasms, Molecular Diagnostic Techniques, Severity of Illness Index, Astrocytoma, World Health Organization, atypical teratoid rhabdoid tumor, brain tumors, classification, glioblastoma, glioma, grading, medulloblastoma, oligodendroglioma, Neurology & Neurosurgery, Clinical Sciences, Neurosciences
Abstract

Major discoveries in the biology of nervous system tumors have raised the question of how non-histological data such as molecular information can be incorporated into the next World Health Organization (WHO) classification of central nervous system tumors. To address this question, a meeting of neuropathologists with expertise in molecular diagnosis was held in Haarlem, the Netherlands, under the sponsorship of the International Society of Neuropathology (ISN). Prior to the meeting, participants solicited input from clinical colleagues in diverse neuro-oncological specialties. The present "white paper" catalogs the recommendations of the meeting, at which a consensus was reached that incorporation of molecular information into the next WHO classification should follow a set of provided "ISN-Haarlem" guidelines. Salient recommendations include that (i) diagnostic entities should be defined as narrowly as possible to optimize interobserver reproducibility, clinicopathological predictions and therapeutic planning; (ii) diagnoses should be "layered" with histologic classification, WHO grade and molecular information listed below an "integrated diagnosis"; (iii) determinations should be made for each tumor entity as to whether molecular information is required, suggested or not needed for its definition; (iv) some pediatric entities should be separated from their adult counterparts; (v) input for guiding decisions regarding tumor classification should be solicited from experts in complementary disciplines of neuro-oncology; and (iv) entity-specific molecular testing and reporting formats should be followed in diagnostic reports. It is hoped that these guidelines will facilitate the forthcoming update of the fourth edition of the WHO classification of central nervous system tumors.

Published
2014

41. ISN‐Haarlem Brain Tumor Classification Guidelines

Author

Louis, David N, Perry, Arie, Burger, Peter, Ellison, David W, Reifenberger, Guido, von Deimling, Andreas, Aldape, Kenneth, Brat, Daniel, Collins, V Peter, Eberhart, Charles, Figarella‐Branger, Dominique, Fuller, Gregory N, Giangaspero, Felice, Giannini, Caterina, Hawkins, Cynthia, Kleihues, Paul, Korshunov, Andrey, Kros, Johan M, Lopes, M Beatriz, Ng, Ho‐Keung, Ohgaki, Hiroko, Paulus, Werner, Pietsch, Torsten, Rosenblum, Marc, Rushing, Elisabeth, Soylemezoglu, Figen, Wiestler, Otmar, and Wesseling, Pieter

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Brain Cancer, Neurosciences, Cancer, Humans, Molecular Diagnostic Techniques, Nervous System Neoplasms, Severity of Illness Index, Astrocytoma, atypical teratoid rhabdoid tumor, brain tumors, classification, glioblastoma, glioma, grading, medulloblastoma, oligodendroglioma, World Health Organization, International Society Of Neuropathology--Haarlem, Neurology & Neurosurgery, Clinical sciences
Abstract

Major discoveries in the biology of nervous system tumors have raised the question of how non-histological data such as molecular information can be incorporated into the next World Health Organization (WHO) classification of central nervous system tumors. To address this question, a meeting of neuropathologists with expertise in molecular diagnosis was held in Haarlem, the Netherlands, under the sponsorship of the International Society of Neuropathology (ISN). Prior to the meeting, participants solicited input from clinical colleagues in diverse neuro-oncological specialties. The present "white paper" catalogs the recommendations of the meeting, at which a consensus was reached that incorporation of molecular information into the next WHO classification should follow a set of provided "ISN-Haarlem" guidelines. Salient recommendations include that (i) diagnostic entities should be defined as narrowly as possible to optimize interobserver reproducibility, clinicopathological predictions and therapeutic planning; (ii) diagnoses should be "layered" with histologic classification, WHO grade and molecular information listed below an "integrated diagnosis"; (iii) determinations should be made for each tumor entity as to whether molecular information is required, suggested or not needed for its definition; (iv) some pediatric entities should be separated from their adult counterparts; (v) input for guiding decisions regarding tumor classification should be solicited from experts in complementary disciplines of neuro-oncology; and (iv) entity-specific molecular testing and reporting formats should be followed in diagnostic reports. It is hoped that these guidelines will facilitate the forthcoming update of the fourth edition of the WHO classification of central nervous system tumors.

Published
2014

42. Radiomics-Based Prediction of TERT Promotor Mutations in Intracranial High-Grade Meningiomas

Author

Akkurt, Burak Han, primary, Spille, Dorothee Cäcilia, additional, Peetz-Dienhart, Susanne, additional, Kiolbassa, Nora Maren, additional, Mawrin, Christian, additional, Musigmann, Manfred, additional, Heindel, Walter Leonhard, additional, Paulus, Werner, additional, Stummer, Walter, additional, Mannil, Manoj, additional, and Brokinkel, Benjamin, additional

Published
2023
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49. Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1

Author

Thomas, Christian, Knerlich-Lukoschus, Friederike, Reinhard, Harald, Johann, Pascal D., Sturm, Dominik, Sahm, Felix, Bens, Susanne, Vogt, Julia, Nemes, Karolina, Oyen, Florian, Kordes, Uwe, Siebert, Reiner, Schneppenheim, Reinhard, Messing-Jünger, Martina, Pietsch, Torsten, von Deimling, Andreas, Paulus, Werner, Pfister, Stefan M., Kool, Marcel, Frühwald, Michael C., and Hasselblatt, Martin

Published
2019
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50. Papillary glioneuronal tumor (PGNT) exhibits a characteristic methylation profile and fusions involving PRKCA

Author

Hou, Yanghao, Pinheiro, Jorge, Sahm, Felix, Reuss, David E., Schrimpf, Daniel, Stichel, Damian, Casalini, Belén, Koelsche, Christian, Sievers, Philipp, Wefers, Annika K., Reinhardt, Annekathrin, Ebrahimi, Azadeh, Fernández-Klett, Francisco, Pusch, Stefan, Meier, Jochen, Schweizer, Leonille, Paulus, Werner, Prinz, Marco, Hartmann, Christian, Plate, Karl H., Reifenberger, Guido, Pietsch, Torsten, Varlet, Pascale, Pagès, Mélanie, Schüller, Ulrich, Scheie, David, de Stricker, Karin, Frank, Stephan, Hench, Jürgen, Pollo, Bianca, Brandner, Sebastian, Unterberg, Andreas, Pfister, Stefan M., Jones, David T. W., Korshunov, Andrey, Wick, Wolfgang, Capper, David, Blümcke, Ingmar, von Deimling, Andreas, and Bertero, Luca

Published
2019
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