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2. Systematic analysis of RNA-binding proteins identifies targetable therapeutic vulnerabilities in osteosarcoma

Author

Zhou, Yang, Ray, Partho Sarothi, Zhu, Jianguo, Stein, Frank, Rettel, Mandy, Sekaran, Thileepan, Sahadevan, Sudeep, Perez-Perri, Joel I., Roth, Eva K., Myklebost, Ola, Meza-Zepeda, Leonardo A., von Deimling, Andreas, Fu, Chuli, Brosig, Annika N., Boye, Kjetil, Nathrath, Michaela, Blattmann, Claudia, Lehner, Burkhard, Hentze, Matthias W., and Kulozik, Andreas E.

Published
2024
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3. Betibeglogene autotemcel gene therapy in patients with transfusion-dependent, severe genotype β-thalassaemia (HGB-212): a non-randomised, multicentre, single-arm, open-label, single-dose, phase 3 trial

Author

Kwiatkowski, Janet L, Walters, Mark C, Hongeng, Suradej, Yannaki, Evangelia, Kulozik, Andreas E, Kunz, Joachim B, Sauer, Martin G, Thrasher, Adrian J, Thuret, Isabelle, Lal, Ashutosh, Tao, Ge, Ali, Shamshad, Thakar, Himal L, Elliot, Heidi, Lodaya, Ankit, Lee, Ji, Colvin, Richard A, Locatelli, Franco, and Thompson, Alexis A

Published
2024
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5. Functional analysis of structural variants in single cells using Strand-seq

Author

Jeong, Hyobin, Grimes, Karen, Rauwolf, Kerstin K., Bruch, Peter-Martin, Rausch, Tobias, Hasenfeld, Patrick, Benito, Eva, Roider, Tobias, Sabarinathan, Radhakrishnan, Porubsky, David, Herbst, Sophie A., Erarslan-Uysal, Büşra, Jann, Johann-Christoph, Marschall, Tobias, Nowak, Daniel, Bourquin, Jean-Pierre, Kulozik, Andreas E., Dietrich, Sascha, Bornhauser, Beat, Sanders, Ashley D., and Korbel, Jan O.

Published
2023
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6. Treatment of adult ALL patients with third-generation CD19-directed CAR T cells: results of a pivotal trial

Author

Schubert, Maria-Luisa, Schmitt, Anita, Hückelhoven-Krauss, Angela, Neuber, Brigitte, Kunz, Alexander, Waldhoff, Philip, Vonficht, Dominik, Yousefian, Schayan, Jopp-Saile, Lea, Wang, Lei, Korell, Felix, Keib, Anna, Michels, Birgit, Haas, Dominik, Sauer, Tim, Derigs, Patrick, Kulozik, Andreas, Kunz, Joachim, Pavel, Petra, Laier, Sascha, Wuchter, Patrick, Schmier, Johann, Bug, Gesine, Lang, Fabian, Gökbuget, Nicola, Casper, Jochen, Görner, Martin, Finke, Jürgen, Neubauer, Andreas, Ringhoffer, Mark, Wolleschak, Denise, Brüggemann, Monika, Haas, Simon, Ho, Anthony D., Müller-Tidow, Carsten, Dreger, Peter, and Schmitt, Michael

Published
2023
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7. Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group

Author

Junk, Stefanie V., Schaeffeler, Elke, Zimmermann, Martin, Möricke, Anja, Beier, Rita, Schütte, Peter, Fedders, Birthe, Alten, Julia, Hinze, Laura, Klein, Norman, Kulozik, Andreas, Muckenthaler, Martina U., Koehler, Rolf, Borkhardt, Arndt, Vijayakrishnan, Jayaram, Ellinghaus, David, Forster, Michael, Franke, Andre, Wintering, Astrid, Kratz, Christian P., Schrappe, Martin, Schwab, Matthias, Houlston, Richard S., Cario, Gunnar, and Stanulla, Martin

Published
2023
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8. Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding

Author

Lee, Olivia W., Rodrigues, Calvin, Lin, Shu-Hong, Luo, Wen, Jones, Kristine, Brown, Derek W., Zhou, Weiyin, Karlins, Eric, Khan, Sairah M., Baulande, Sylvain, Raynal, Virginie, Surdez, Didier, Reynaud, Stephanie, Rubio, Rebeca Alba, Zaidi, Sakina, Grossetête, Sandrine, Ballet, Stelly, Lapouble, Eve, Laurence, Valérie, Pierron, Gaelle, Gaspar, Nathalie, Corradini, Nadège, Marec-Bérard, Perrine, Rothman, Nathaniel, Dagnall, Casey L., Burdett, Laurie, Manning, Michelle, Wyatt, Kathleen, Yeager, Meredith, Chari, Raj, Leisenring, Wendy M., Kulozik, Andreas E., Kriebel, Jennifer, Meitinger, Thomas, Strauch, Konstantin, Kirchner, Thomas, Dirksen, Uta, Mirabello, Lisa, Tucker, Margaret A., Tirode, Franck, Armstrong, Gregory T., Bhatia, Smita, Robison, Leslie L., Yasui, Yutaka, Romero-Pérez, Laura, Hartmann, Wolfgang, Metzler, Markus, Diver, W. Ryan, Lori, Adriana, Freedman, Neal D., Hoover, Robert N., Morton, Lindsay M., Chanock, Stephen J., Grünewald, Thomas G.P., Delattre, Olivier, and Machiela, Mitchell J.

Published
2023
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9. Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution

Author

Richter-Pechańska, Paulina, Kunz, Joachim B., Rausch, Tobias, Erarslan-Uysal, Büşra, Bornhauser, Beat, Frismantas, Viktoras, Assenov, Yassen, Zimmermann, Martin, Happich, Margit, von Knebel-Doeberitz, Caroline, von Neuhoff, Nils, Köhler, Rolf, Stanulla, Martin, Schrappe, Martin, Cario, Gunnar, Escherich, Gabriele, Kirschner-Schwabe, Renate, Eckert, Cornelia, Avigad, Smadar, Pfister, Stefan M., Muckenthaler, Martina U., Bourquin, Jean-Pierre, Korbel, Jan O., and Kulozik, Andreas E.

Published
2022
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10. Combining daratumumab with CD47 blockade prolongs survival in preclinical models of pediatric T-ALL

Author

Müller, Kristina, Vogiatzi, Fotini, Winterberg, Dorothee, Rösner, Thies, Lenk, Lennart, Bastian, Lorenz, Gehlert, Carina L., Autenrieb, Marie-Pauline, Brüggemann, Monika, Cario, Gunnar, Schrappe, Martin, Kulozik, Andreas E., Eckert, Cornelia, Bergmann, Anke K., Bornhauser, Beat, Bourquin, Jean-Pierre, Valerius, Thomas, Peipp, Matthias, Kellner, Christian, and Schewe, Denis M.

Published
2022
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12. The German sickle cell disease registry reveals a surprising risk of acute splenic sequestration and an increased transfusion requirement in patients with compound heterozygous sickle cell disease HbS/β‐thalassaemia and no or low HbA expression

Author

Allard, Pierre, Tagliaferri, Laura, Weru, Vivienn, Cario, Holger, Lobitz, Stephan, Grosse, Regine, Bleeke, Matthias, Oevermann, Lena, Hakimeh, Dani, Jarisch, Andrea, Kopp‐Schneider, Annette, Kulozik, Andreas E., Kunz, Joachim B., Lassay, Lisa, Kontny, Udo, Frühwald, Michael, Westphal, Silke, Holzapfel, Johannes, Schulte, Johannes, and Eckert, Maike

Subjects
RED blood cell transfusion, SICKLE cell anemia, GENE expression, BLOOD transfusion, MEDICAL registries
Abstract

Patients with sickle cell disease (SCD) in Germany exhibit a substantial genetic diversity in the β‐globin genotype. Data collected by the national German SCD registry reflect this diversity and allowed us to analyze the phenotypes associated with different SCD genotypes. Our study focused on 90 patients with HbS/β‐thalassaemia (HbS/β‐thal) and compared these to patients with HbSS and HbSC. Patients with HbS/β‐thal were classified into three groups: HbS/β0‐thal (no HbA), HbS/β+‐thal (HbA < 14%), and HbS/β++‐thal (HbA≥14%). In comparison to HbSS, patients with HbS/β++‐thal had higher Hb‐levels, lower hemolytic activity and rarely required red blood cell transfusions. HbS/β0‐thal and HbS/β+‐thal closely resembled each other and are jointly referred to as HbS/β0/+‐thal. Compared to HbSS, patients with HbS/β0/+‐thal experienced a similar frequency of vasoocclusive crises and degree of hemolysis. However, the frequency of red blood cell transfusions (0.6 vs. 0.39/year, p =.0049) and splenic sequestration crises (42.4 vs. 15.5% of patients, p = 3.799e‐05) was higher in HbS/β0/+‐thal than in HbSS, but close to zero in HbS/β++‐thal. In conclusion, the level of HbA expression determines the phenotype of HbS/β+‐thal. HbS/β‐thal expressing no or little HbA is hematologically similar to HbSS, but causes a previously unknown high risk of splenic sequestration. [ABSTRACT FROM AUTHOR]

Published
2024
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13. DNA methylation-based classification of central nervous system tumours.

Author

Capper, David, Jones, David TW, Sill, Martin, Hovestadt, Volker, Schrimpf, Daniel, Sturm, Dominik, Koelsche, Christian, Sahm, Felix, Chavez, Lukas, Reuss, David E, Kratz, Annekathrin, Wefers, Annika K, Huang, Kristin, Pajtler, Kristian W, Schweizer, Leonille, Stichel, Damian, Olar, Adriana, Engel, Nils W, Lindenberg, Kerstin, Harter, Patrick N, Braczynski, Anne K, Plate, Karl H, Dohmen, Hildegard, Garvalov, Boyan K, Coras, Roland, Hölsken, Annett, Hewer, Ekkehard, Bewerunge-Hudler, Melanie, Schick, Matthias, Fischer, Roger, Beschorner, Rudi, Schittenhelm, Jens, Staszewski, Ori, Wani, Khalida, Varlet, Pascale, Pages, Melanie, Temming, Petra, Lohmann, Dietmar, Selt, Florian, Witt, Hendrik, Milde, Till, Witt, Olaf, Aronica, Eleonora, Giangaspero, Felice, Rushing, Elisabeth, Scheurlen, Wolfram, Geisenberger, Christoph, Rodriguez, Fausto J, Becker, Albert, Preusser, Matthias, Haberler, Christine, Bjerkvig, Rolf, Cryan, Jane, Farrell, Michael, Deckert, Martina, Hench, Jürgen, Frank, Stephan, Serrano, Jonathan, Kannan, Kasthuri, Tsirigos, Aristotelis, Brück, Wolfgang, Hofer, Silvia, Brehmer, Stefanie, Seiz-Rosenhagen, Marcel, Hänggi, Daniel, Hans, Volkmar, Rozsnoki, Stephanie, Hansford, Jordan R, Kohlhof, Patricia, Kristensen, Bjarne W, Lechner, Matt, Lopes, Beatriz, Mawrin, Christian, Ketter, Ralf, Kulozik, Andreas, Khatib, Ziad, Heppner, Frank, Koch, Arend, Jouvet, Anne, Keohane, Catherine, Mühleisen, Helmut, Mueller, Wolf, Pohl, Ute, Prinz, Marco, Benner, Axel, Zapatka, Marc, Gottardo, Nicholas G, Driever, Pablo Hernáiz, Kramm, Christof M, Müller, Hermann L, Rutkowski, Stefan, von Hoff, Katja, Frühwald, Michael C, Gnekow, Astrid, Fleischhack, Gudrun, Tippelt, Stephan, Calaminus, Gabriele, Monoranu, Camelia-Maria, Perry, Arie, and Jones, Chris

Subjects
Humans, Central Nervous System Neoplasms, Cohort Studies, Reproducibility of Results, DNA Methylation, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Child, Preschool, Infant, Female, Male, Young Adult, Unsupervised Machine Learning, and over, Preschool, General Science & Technology
Abstract

Accurate pathological diagnosis is crucial for optimal management of patients with cancer. For the approximately 100 known tumour types of the central nervous system, standardization of the diagnostic process has been shown to be particularly challenging-with substantial inter-observer variability in the histopathological diagnosis of many tumour types. Here we present a comprehensive approach for the DNA methylation-based classification of central nervous system tumours across all entities and age groups, and demonstrate its application in a routine diagnostic setting. We show that the availability of this method may have a substantial impact on diagnostic precision compared to standard methods, resulting in a change of diagnosis in up to 12% of prospective cases. For broader accessibility, we have designed a free online classifier tool, the use of which does not require any additional onsite data processing. Our results provide a blueprint for the generation of machine-learning-based tumour classifiers across other cancer entities, with the potential to fundamentally transform tumour pathology.

Published
2018

14. Anämien

Author

Kunz, Joachim, Kulozik, Andreas, Berner, Reinhard, Section editor, Hoffmann, Georg F., editor, Lentze, Michael J., editor, Spranger, Jürgen, editor, Zepp, Fred, editor, Berner, Reinhard, editor, Schaub, Jürgen, Founding Editor, and Schulte, Franz-Josef, Founding Editor

Published
2020
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15. Erythrozyten: physiologische Besonderheiten im Kindesalter

Author

Kunz, Joachim, Kulozik, Andreas, Berner, Reinhard, Section editor, Hoffmann, Georg F., editor, Lentze, Michael J., editor, Spranger, Jürgen, editor, Zepp, Fred, editor, Berner, Reinhard, editor, Schaub, Jürgen, Founding Editor, and Schulte, Franz-Josef, Founding Editor

Published
2020
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19. Funktionsstörungen des Hämoglobins und Polyzythämie

Author

Kunz, Joachim, Kulozik, Andreas, Berner, Reinhard, Section editor, Hoffmann, Georg F., editor, Lentze, Michael J., editor, Spranger, Jürgen, editor, Zepp, Fred, editor, Berner, Reinhard, editor, Schaub, Jürgen, Founding Editor, and Schulte, Franz-Josef, Founding Editor

Published
2020
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20. Sustained Efficacy and Safety in Adult and Pediatric Patients with Transfusion-Dependent β-Thalassemia up to 9 Years Post Treatment with Betibeglogene Autotemcel (Beti-cel)

Author

Walters, Mark C., primary, Thompson, Alexis A., additional, Olson, Timothy S., additional, Porter, John B., additional, Schneiderman, Jennifer, additional, Hongeng, Suradej, additional, Kulozik, Andreas E., additional, Cavazzana, Marina, additional, Sauer, Martin G., additional, Thrasher, Adrian J., additional, Thuret, Isabelle, additional, Lal, Ashutosh, additional, Rasko, John E.J., additional, Yannaki, Evangelia, additional, Ali, Shamshad, additional, Tao, Ge, additional, Thakar, Himal L., additional, Deora, Ami, additional, Gruppioni, Katiana, additional, Colvin, Richard A., additional, Locatelli, Franco, additional, and Kwiatkowski, Janet L., additional

Published
2024
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21. Betibeglogene Autotemcel Gene Therapy in Patients with Transfusion-Dependent, Severe Genotype β‑Thalassaemia: Results from the HGB-212 (Northstar-3) Study

Author

Kwiatkowski, Janet L., primary, Walters, Mark C., additional, Hongeng, Suradej, additional, Yannaki, Evangelia, additional, Kulozik, Andreas E., additional, Kunz, Joachim B., additional, Sauer, Martin G., additional, Thrasher, Adrian J., additional, Thuret, Isabelle, additional, Lal, Ashutosh, additional, Tao, Ge, additional, Ali, Shamshad, additional, Takar, Himal, additional, Elliot, Heidi, additional, Lodaya, Ankit, additional, Lee, Ji, additional, Colvin, Richard A., additional, Locatelli, Franco, additional, and Thompson, Alexis A., additional

Published
2024
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23. Single-cell analysis of structural variations and complex rearrangements with tri-channel processing

Author

Sanders, Ashley D., Meiers, Sascha, Ghareghani, Maryam, Porubsky, David, Jeong, Hyobin, van Vliet, M. Alexandra C. C., Rausch, Tobias, Richter-Pechańska, Paulina, Kunz, Joachim B., Jenni, Silvia, Bolognini, Davide, Longo, Gabriel M. C., Raeder, Benjamin, Kinanen, Venla, Zimmermann, Jürgen, Benes, Vladimir, Schrappe, Martin, Mardin, Balca R., Kulozik, Andreas E., Bornhauser, Beat, Bourquin, Jean-Pierre, Marschall, Tobias, and Korbel, Jan O.

Published
2020
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24. Genotyping circulating tumor DNA of pediatric Hodgkin lymphoma

Author

Desch, Ann-Kathrin, Hartung, Kristin, Botzen, Ante, Brobeil, Alexander, Rummel, Mathias, Kurch, Lars, Georgi, Thomas, Jox, Theresa, Bielack, Stefan, Burdach, Stefan, Classen, Carl Friedrich, Claviez, Alexander, Debatin, Klaus-Michael, Ebinger, Martin, Eggert, Angelika, Faber, Jörg, Flotho, Christian, Frühwald, Michael, Graf, Norbert, Jorch, Norbert, Kontny, Udo, Kramm, Christof, Kulozik, Andreas, Kühr, Joachim, Sykora, Karl-Walter, Metzler, Markus, Müller, Hermann L., Nathrath, Michaela, Nüßlein, Thomas, Paulussen, Michael, Pekrun, Arnulf, Reinhardt, Dirk, Reinhard, Harald, Rössig, Claudia, Sauerbrey, Axel, Schlegel, Paul-Gerhardt, Schneider, Dominik T., Scheurlen, Wolfram, Schweigerer, Lothar, Simon, Thorsten, Suttorp, Meinolf, Vorwerk, Peter, Schmitz, Roland, Kluge, Regine, Mauz-Körholz, Christine, Körholz, Dieter, Gattenlöhner, Stefan, and Bräuninger, Andreas

Published
2020
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25. Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups

Author

Pajtler, Kristian W, Witt, Hendrik, Sill, Martin, Jones, David TW, Hovestadt, Volker, Kratochwil, Fabian, Wani, Khalida, Tatevossian, Ruth, Punchihewa, Chandanamali, Johann, Pascal, Reimand, Jüri, Warnatz, Hans-Jörg, Ryzhova, Marina, Mack, Steve, Ramaswamy, Vijay, Capper, David, Schweizer, Leonille, Sieber, Laura, Wittmann, Andrea, Huang, Zhiqin, van Sluis, Peter, Volckmann, Richard, Koster, Jan, Versteeg, Rogier, Fults, Daniel, Toledano, Helen, Avigad, Smadar, Hoffman, Lindsey M, Donson, Andrew M, Foreman, Nicholas, Hewer, Ekkehard, Zitterbart, Karel, Gilbert, Mark, Armstrong, Terri S, Gupta, Nalin, Allen, Jeffrey C, Karajannis, Matthias A, Zagzag, David, Hasselblatt, Martin, Kulozik, Andreas E, Witt, Olaf, Collins, V Peter, von Hoff, Katja, Rutkowski, Stefan, Pietsch, Torsten, Bader, Gary, Yaspo, Marie-Laure, von Deimling, Andreas, Lichter, Peter, Taylor, Michael D, Gilbertson, Richard, Ellison, David W, Aldape, Kenneth, Korshunov, Andrey, Kool, Marcel, and Pfister, Stefan M

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Cancer, Adaptor Proteins, Signal Transducing, Adolescent, Adult, Age Factors, Aged, Central Nervous System Neoplasms, Child, Child, Preschool, DNA Methylation, Ependymoma, Female, Gene Dosage, Gene Expression Profiling, Gene Fusion, Humans, Infant, Male, Middle Aged, Phosphoproteins, Transcription Factors, Transcription, Genetic, YAP-Signaling Proteins, Young Adult, Neurosciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis, Biochemistry and cell biology, Oncology and carcinogenesis
Abstract

Ependymal tumors across age groups are currently classified and graded solely by histopathology. It is, however, commonly accepted that this classification scheme has limited clinical utility based on its lack of reproducibility in predicting patients' outcome. We aimed at establishing a uniform molecular classification using DNA methylation profiling. Nine molecular subgroups were identified in a large cohort of 500 tumors, 3 in each anatomical compartment of the CNS, spine, posterior fossa, supratentorial. Two supratentorial subgroups are characterized by prototypic fusion genes involving RELA and YAP1, respectively. Regarding clinical associations, the molecular classification proposed herein outperforms the current histopathological classification and thus might serve as a basis for the next World Health Organization classification of CNS tumors.

Published
2015

26. 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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27. Genome Sequencing of SHH Medulloblastoma Predicts Genotype-Related Response to Smoothened Inhibition

Author

Kool, Marcel, Jones, David TW, Jäger, Natalie, Northcott, Paul A, Pugh, Trevor J, Hovestadt, Volker, Piro, Rosario M, Esparza, L Adriana, Markant, Shirley L, Remke, Marc, Milde, Till, Bourdeaut, Franck, Ryzhova, Marina, Sturm, Dominik, Pfaff, Elke, Stark, Sebastian, Hutter, Sonja, Şeker-Cin, Huriye, Johann, Pascal, Bender, Sebastian, Schmidt, Christin, Rausch, Tobias, Shih, David, Reimand, Jüri, Sieber, Laura, Wittmann, Andrea, Linke, Linda, Witt, Hendrik, Weber, Ursula D, Zapatka, Marc, König, Rainer, Beroukhim, Rameen, Bergthold, Guillaume, van Sluis, Peter, Volckmann, Richard, Koster, Jan, Versteeg, Rogier, Schmidt, Sabine, Wolf, Stephan, Lawerenz, Chris, Bartholomae, Cynthia C, von Kalle, Christof, Unterberg, Andreas, Herold-Mende, Christel, Hofer, Silvia, Kulozik, Andreas E, von Deimling, Andreas, Scheurlen, Wolfram, Felsberg, Jörg, Reifenberger, Guido, Hasselblatt, Martin, Crawford, John R, Grant, Gerald A, Jabado, Nada, Perry, Arie, Cowdrey, Cynthia, Croul, Sydney, Zadeh, Gelareh, Korbel, Jan O, Doz, Francois, Delattre, Olivier, Bader, Gary D, McCabe, Martin G, Collins, V Peter, Kieran, Mark W, Cho, Yoon-Jae, Pomeroy, Scott L, Witt, Olaf, Brors, Benedikt, Taylor, Michael D, Schüller, Ulrich, Korshunov, Andrey, Eils, Roland, Wechsler-Reya, Robert J, Lichter, Peter, Pfister, Stefan M, and Project, on behalf of the ICGC PedBrain Tumor

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Neurosciences, Pediatric Research Initiative, Genetics, Rare Diseases, Cancer, Pediatric, Brain Cancer, Pediatric Cancer, Brain Disorders, Adolescent, Adult, Animals, Base Sequence, Biphenyl Compounds, Cerebellar Neoplasms, Child, Child, Preschool, DEAD-box RNA Helicases, DNA Copy Number Variations, Drug Resistance, Neoplasm, Female, Gene Expression Profiling, Hedgehog Proteins, High-Throughput Nucleotide Sequencing, Humans, Infant, Kruppel-Like Transcription Factors, Male, Medulloblastoma, Mice, Mice, Inbred NOD, Mice, SCID, Molecular Sequence Data, N-Myc Proto-Oncogene Protein, Neoplasm Transplantation, Nuclear Proteins, Oncogene Proteins, Patched Receptors, Patched-1 Receptor, Phosphatidylinositol 3-Kinases, Promoter Regions, Genetic, Proto-Oncogene Proteins c-akt, Pyridines, Receptors, Cell Surface, Receptors, G-Protein-Coupled, Repressor Proteins, Signal Transduction, Smoothened Receptor, Telomerase, Tumor Suppressor Protein p53, Young Adult, Zinc Finger Protein Gli2, ICGC PedBrain Tumor Project, Oncology and Carcinogenesis, Oncology & Carcinogenesis, Biochemistry and cell biology, Oncology and carcinogenesis
Abstract

Smoothened (SMO) inhibitors recently entered clinical trials for sonic-hedgehog-driven medulloblastoma (SHH-MB). Clinical response is highly variable. To understand the mechanism(s) of primary resistance and identify pathways cooperating with aberrant SHH signaling, we sequenced and profiled a large cohort of SHH-MBs (n = 133). SHH pathway mutations involved PTCH1 (across all age groups), SUFU (infants, including germline), and SMO (adults). Children >3 years old harbored an excess of downstream MYCN and GLI2 amplifications and frequent TP53 mutations, often in the germline, all of which were rare in infants and adults. Functional assays in different SHH-MB xenograft models demonstrated that SHH-MBs harboring a PTCH1 mutation were responsive to SMO inhibition, whereas tumors harboring an SUFU mutation or MYCN amplification were primarily resistant.

Published
2014

33. PB1725: INTERNATIONAL LEUKEMIA TARGET BOARD - A PLATFORM TO DISCUSS AND PRIORITIZE TARGETED TREATMENT OPTIONS FOR PATIENTS WITH RELAPSED/REFRACTORY PEDIATRIC HEMATOLOGICAL MALIGNANCIES (ILTB) – ITCC 107

Author

Ilan, Uri, primary, Boer, Judith M., additional, Burkhardt, Birgit, additional, Delft, Frederik van, additional, Izraeli, Shai, additional, Klusmann, Jan-Henning, additional, Moerloose, Barbara De, additional, Velasco, Pablo, additional, Irving, Julie, additional, Fuster, José Luis, additional, Erdélyi, Dániel, additional, Kulozik, Andreas E, additional, Reinhardt, Dirk, additional, Zwaan, Michel, additional, and den Boer, Monique L., additional

Published
2023
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34. P333: SUBCLONAL AND CLONAL VARIANTS IN TP53 AND KRAS COMBINED WITH POOR TREATMENT RESPONSE IDENTIFY A SUBGROUP OF ULTRA-HIGH-RISK PATIENTS OF PEDIATRIC T-LYMPHOBLASTIC LEUKEMIA (T-ALL)

Author

Kempter, Tamara, primary, Richter-Pechanska, Paulina, additional, Michel, Katarzyna, additional, Rausch, Tobias, additional, Erarslan-Uysal, Büşra, additional, Eckert, Cornelia, additional, Zimmermann, Martin, additional, Stanulla, Martin, additional, Schrappe, Martin, additional, Cario, Gunnar, additional, Kirschner-Schwabe, Renate, additional, Koehrer, Stefan, additional, Korbel, Jan, additional, Kunz, Joachim, additional, and Kulozik, Andreas E, additional

Published
2023
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35. Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin

Author

Seo, Aaron, Ben-Harosh, Miri, Sirin, Mehtap, Stein, Jerry, Dgany, Orly, Kaplelushnik, Joseph, Hoenig, Manfred, Pannicke, Ulrich, Lorenz, Myriam, Schwarz, Klaus, Stockklausner, Clemens, Walsh, Tom, Gulsuner, Suleyman, Lee, Ming K., Sendamarai, Anoop, Sanchez-Bonilla, Marilyn, King, Mary-Claire, Cario, Holger, Kulozik, Andreas E., Debatin, Klaus-Michael, Schulz, Ansgar, Tamary, Hannah, and Shimamura, Akiko

Published
2017
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37. Ex vivo drug response profiling detects recurrent sensitivity patterns in drug-resistant acute lymphoblastic leukemia

Author

Frismantas, Viktoras, Dobay, Maria Pamela, Rinaldi, Anna, Tchinda, Joelle, Dunn, Samuel H., Kunz, Joachim, Richter-Pechanska, Paulina, Marovca, Blerim, Pail, Orrin, Jenni, Silvia, Diaz-Flores, Ernesto, Chang, Bill H., Brown, Timothy J., Collins, Robert H., Uhrig, Sebastian, Balasubramanian, Gnana P., Bandapalli, Obul R., Higi, Salome, Eugster, Sabrina, Voegeli, Pamela, Delorenzi, Mauro, Cario, Gunnar, Loh, Mignon L., Schrappe, Martin, Stanulla, Martin, Kulozik, Andreas E., Muckenthaler, Martina U., Saha, Vaskar, Irving, Julie A., Meisel, Roland, Radimerski, Thomas, Von Stackelberg, Arend, Eckert, Cornelia, Tyner, Jeffrey W., Horvath, Peter, Bornhauser, Beat C., and Bourquin, Jean-Pierre

Published
2017
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39. Chromatin accessibility landscape of pediatric T‐lymphoblastic leukemia and human T‐cell precursors

Author

Erarslan‐Uysal, Büşra, Kunz, Joachim B, Rausch, Tobias, Richter‐Pechańska, Paulina, van Belzen, Ianthe AEM, Frismantas, Viktoras, Bornhauser, Beat, Ordoñez‐Rueada, Diana, Paulsen, Malte, Benes, Vladimir, Stanulla, Martin, Schrappe, Martin, Cario, Gunnar, Escherich, Gabriele, Bakharevich, Kseniya, Kirschner‐Schwabe, Renate, Eckert, Cornelia, Loukanov, Tsvetomir, Gorenflo, Matthias, Waszak, Sebastian M, Bourquin, Jean‐Pierre, Muckenthaler, Martina U, Korbel, Jan O, and Kulozik, Andreas E

Published
2020
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43. Front-line imatinib treatment in children and adolescents with chronic myeloid leukemia: results from a phase III trial

Author

Suttorp, Meinolf, Schulze, Philipp, Glauche, Ingmar, Göhring, Gudrun, von Neuhoff, Nils, Metzler, Markus, Sedlacek, Petr, de Bont, Eveline S. J. M., Balduzzi, Adriana, Lausen, Birgitte, Aleinikova, Olga, Sufliarska, Sabina, Henze, Günter, Strauss, Gabriele, Eggert, Angelika, Kremens, Bernhard, Groll, Andreas H., Berthold, Frank, Klein, Christoph, Groß-Wieltsch, Ute, Sykora, Karl Walter, Borkhardt, Arndt, Kulozik, Andreas E., Schrappe, Martin, Nowasz, Christina, Krumbholz, Manuela, Tauer, Josephine T., Claviez, Alexander, Harbott, Jochen, Kreipe, Hans H., Schlegelberger, Brigitte, and Thiede, Christian

Published
2018
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44. Hypersensitivity Reactions to Native E. coli L-asparaginase in Children With Acute Lymphoblastic Leukemia Treated in Trial ALL-BFM 2000: Impact of Treatment Schedule and Type of Glucocorticoid in Induction

Author

Möricke, Anja, primary, Rizzari, Carmelo, additional, Alten, Julia, additional, Attarbaschi, Andishe, additional, Beier, Rita, additional, Biondi, Andrea, additional, Burkhardt, Birgit, additional, Bodmer, Nicole, additional, Boos, Joachim, additional, Cario, Gunnar, additional, Conter, Valentino, additional, Flotho, Christian, additional, Kulozik, Andreas, additional, Lanvers-Kaminsky, Claudia, additional, Mann, Georg, additional, Niggli, Felix, additional, Silvestri, Daniela, additional, von Stackelberg, Arend, additional, Stanulla, Martin, additional, Valsecchi, Maria-Grazia, additional, Schrappe, Martin, additional, and Zimmermann, Martin, additional

Published
2023
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45. Supplementary Figure 5 from Aging of Preleukemic Thymocytes Drives CpG Island Hypermethylation in T-cell Acute Lymphoblastic Leukemia

Author

Roels, Juliette, primary, Thénoz, Morgan, primary, Szarzyńska, Bronisława, primary, Landfors, Mattias, primary, De Coninck, Stien, primary, Demoen, Lisa, primary, Provez, Lien, primary, Kuchmiy, Anna, primary, Strubbe, Steven, primary, Reunes, Lindy, primary, Pieters, Tim, primary, Matthijssens, Filip, primary, Van Loocke, Wouter, primary, Erarslan-Uysal, Büşra, primary, Richter-Pechańska, Paulina, primary, Declerck, Ken, primary, Lammens, Tim, primary, De Moerloose, Barbara, primary, Deforce, Dieter, primary, Van Nieuwerburgh, Filip, primary, Cheung, Laurence C., primary, Kotecha, Rishi S., primary, Mansour, Marc R., primary, Ghesquière, Bart, primary, Van Camp, Guy, primary, Berghe, Wim Vanden, primary, Kowalczyk, Jerzy R., primary, Szczepański, Tomasz, primary, Davé, Utpal P., primary, Kulozik, Andreas E., primary, Goossens, Steven, primary, Curtis, David J., primary, Taghon, Tom, primary, Dawidowska, Małgorzata, primary, Degerman, Sofie, primary, and Van Vlierberghe, Pieter, primary

Published
2023
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46. Supplementary Figure 8 from Aging of Preleukemic Thymocytes Drives CpG Island Hypermethylation in T-cell Acute Lymphoblastic Leukemia

Author

Roels, Juliette, primary, Thénoz, Morgan, primary, Szarzyńska, Bronisława, primary, Landfors, Mattias, primary, De Coninck, Stien, primary, Demoen, Lisa, primary, Provez, Lien, primary, Kuchmiy, Anna, primary, Strubbe, Steven, primary, Reunes, Lindy, primary, Pieters, Tim, primary, Matthijssens, Filip, primary, Van Loocke, Wouter, primary, Erarslan-Uysal, Büşra, primary, Richter-Pechańska, Paulina, primary, Declerck, Ken, primary, Lammens, Tim, primary, De Moerloose, Barbara, primary, Deforce, Dieter, primary, Van Nieuwerburgh, Filip, primary, Cheung, Laurence C., primary, Kotecha, Rishi S., primary, Mansour, Marc R., primary, Ghesquière, Bart, primary, Van Camp, Guy, primary, Berghe, Wim Vanden, primary, Kowalczyk, Jerzy R., primary, Szczepański, Tomasz, primary, Davé, Utpal P., primary, Kulozik, Andreas E., primary, Goossens, Steven, primary, Curtis, David J., primary, Taghon, Tom, primary, Dawidowska, Małgorzata, primary, Degerman, Sofie, primary, and Van Vlierberghe, Pieter, primary

Published
2023
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47. Supplementary Figure 1 from Aging of Preleukemic Thymocytes Drives CpG Island Hypermethylation in T-cell Acute Lymphoblastic Leukemia

Author

Roels, Juliette, primary, Thénoz, Morgan, primary, Szarzyńska, Bronisława, primary, Landfors, Mattias, primary, De Coninck, Stien, primary, Demoen, Lisa, primary, Provez, Lien, primary, Kuchmiy, Anna, primary, Strubbe, Steven, primary, Reunes, Lindy, primary, Pieters, Tim, primary, Matthijssens, Filip, primary, Van Loocke, Wouter, primary, Erarslan-Uysal, Büşra, primary, Richter-Pechańska, Paulina, primary, Declerck, Ken, primary, Lammens, Tim, primary, De Moerloose, Barbara, primary, Deforce, Dieter, primary, Van Nieuwerburgh, Filip, primary, Cheung, Laurence C., primary, Kotecha, Rishi S., primary, Mansour, Marc R., primary, Ghesquière, Bart, primary, Van Camp, Guy, primary, Berghe, Wim Vanden, primary, Kowalczyk, Jerzy R., primary, Szczepański, Tomasz, primary, Davé, Utpal P., primary, Kulozik, Andreas E., primary, Goossens, Steven, primary, Curtis, David J., primary, Taghon, Tom, primary, Dawidowska, Małgorzata, primary, Degerman, Sofie, primary, and Van Vlierberghe, Pieter, primary

Published
2023
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48. Supplementary Figure 9 from Aging of Preleukemic Thymocytes Drives CpG Island Hypermethylation in T-cell Acute Lymphoblastic Leukemia

Author

Roels, Juliette, primary, Thénoz, Morgan, primary, Szarzyńska, Bronisława, primary, Landfors, Mattias, primary, De Coninck, Stien, primary, Demoen, Lisa, primary, Provez, Lien, primary, Kuchmiy, Anna, primary, Strubbe, Steven, primary, Reunes, Lindy, primary, Pieters, Tim, primary, Matthijssens, Filip, primary, Van Loocke, Wouter, primary, Erarslan-Uysal, Büşra, primary, Richter-Pechańska, Paulina, primary, Declerck, Ken, primary, Lammens, Tim, primary, De Moerloose, Barbara, primary, Deforce, Dieter, primary, Van Nieuwerburgh, Filip, primary, Cheung, Laurence C., primary, Kotecha, Rishi S., primary, Mansour, Marc R., primary, Ghesquière, Bart, primary, Van Camp, Guy, primary, Berghe, Wim Vanden, primary, Kowalczyk, Jerzy R., primary, Szczepański, Tomasz, primary, Davé, Utpal P., primary, Kulozik, Andreas E., primary, Goossens, Steven, primary, Curtis, David J., primary, Taghon, Tom, primary, Dawidowska, Małgorzata, primary, Degerman, Sofie, primary, and Van Vlierberghe, Pieter, primary

Published
2023
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49. Supplementary Tables from Aging of Preleukemic Thymocytes Drives CpG Island Hypermethylation in T-cell Acute Lymphoblastic Leukemia

Author

Roels, Juliette, primary, Thénoz, Morgan, primary, Szarzyńska, Bronisława, primary, Landfors, Mattias, primary, De Coninck, Stien, primary, Demoen, Lisa, primary, Provez, Lien, primary, Kuchmiy, Anna, primary, Strubbe, Steven, primary, Reunes, Lindy, primary, Pieters, Tim, primary, Matthijssens, Filip, primary, Van Loocke, Wouter, primary, Erarslan-Uysal, Büşra, primary, Richter-Pechańska, Paulina, primary, Declerck, Ken, primary, Lammens, Tim, primary, De Moerloose, Barbara, primary, Deforce, Dieter, primary, Van Nieuwerburgh, Filip, primary, Cheung, Laurence C., primary, Kotecha, Rishi S., primary, Mansour, Marc R., primary, Ghesquière, Bart, primary, Van Camp, Guy, primary, Berghe, Wim Vanden, primary, Kowalczyk, Jerzy R., primary, Szczepański, Tomasz, primary, Davé, Utpal P., primary, Kulozik, Andreas E., primary, Goossens, Steven, primary, Curtis, David J., primary, Taghon, Tom, primary, Dawidowska, Małgorzata, primary, Degerman, Sofie, primary, and Van Vlierberghe, Pieter, primary

Published
2023
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50. Supplementary Figure 7 from Aging of Preleukemic Thymocytes Drives CpG Island Hypermethylation in T-cell Acute Lymphoblastic Leukemia

Author

Roels, Juliette, primary, Thénoz, Morgan, primary, Szarzyńska, Bronisława, primary, Landfors, Mattias, primary, De Coninck, Stien, primary, Demoen, Lisa, primary, Provez, Lien, primary, Kuchmiy, Anna, primary, Strubbe, Steven, primary, Reunes, Lindy, primary, Pieters, Tim, primary, Matthijssens, Filip, primary, Van Loocke, Wouter, primary, Erarslan-Uysal, Büşra, primary, Richter-Pechańska, Paulina, primary, Declerck, Ken, primary, Lammens, Tim, primary, De Moerloose, Barbara, primary, Deforce, Dieter, primary, Van Nieuwerburgh, Filip, primary, Cheung, Laurence C., primary, Kotecha, Rishi S., primary, Mansour, Marc R., primary, Ghesquière, Bart, primary, Van Camp, Guy, primary, Berghe, Wim Vanden, primary, Kowalczyk, Jerzy R., primary, Szczepański, Tomasz, primary, Davé, Utpal P., primary, Kulozik, Andreas E., primary, Goossens, Steven, primary, Curtis, David J., primary, Taghon, Tom, primary, Dawidowska, Małgorzata, primary, Degerman, Sofie, primary, and Van Vlierberghe, Pieter, primary

Published
2023
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