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New insights into atypical Alzheimer's disease in the era of biomarkers.

Jonathan Graff-Radford, Keir X X Yong, Liana G Apostolova, Femke H Bouwman, Maria Carrillo, Bradford C Dickerson, Gil D Rabinovici, Jonathan M Schott, David T Jones, Melissa E Murray,

Most patients with Alzheimer's disease present with amnestic problems; however, a substantial proportion, over-represented in young-onset cases, have atypical phenotypes including predominant visual, language, executive, behavioural, or motor dysfunction. In the past, these individuals often received a late diagnosis; however, availability of CSF and PET biomarkers of Alzheimer's disease pathologies ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2021, 20(3):222-234]

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Integrated molecular analysis of adult Sonic Hedgehog (SHH)-activated medulloblastomas reveals two clinically relevant tumor subsets with VEGFA as potent prognostic indicator.

Andrey Korshunov, Konstantin Okonechnikov, Damian Stichel, Marina Ryzhova, Daniel Schrimpf, Felix Sahm, Philipp Sievers, Oksana Absalyamova, Olga Zheludkova, Andrey Golanov, David T W Jones, Stefan M Pfister, Andreas von Deimling, Marcel Kool,

<h4>Background</h4>Up to now, adult medulloblastoma (MB) patients are treated according to the protocols elaborated for pediatric MB although these tumors are different in terms of clinical outcomes and biology. Approximately 70% of adult MB disclose a Sonic Hedgehog (SHH) molecular signature in contrast to about 30% in pediatric cohorts. In ... Read more >>

Neuro Oncol (Neuro-oncology)
[2021, :]

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Clinical and molecular heterogeneity of pineal parenchymal tumors: a consensus study.

Anthony P Y Liu, Bryan K Li, Elke Pfaff, Brian Gudenas, Alexandre Vasiljevic, Brent A Orr, Christelle Dufour, Matija Snuderl, Matthias A Karajannis, Marc K Rosenblum, Eugene I Hwang, Ho-Keung Ng, Jordan R Hansford, Alexandru Szathmari, Cécile Faure-Conter, Thomas E Merchant, Max Levine, Nancy Bouvier, Katja von Hoff, Martin Mynarek, Stefan Rutkowski, Felix Sahm, Marcel Kool, Cynthia Hawkins, Arzu Onar-Thomas, Giles W Robinson, Amar Gajjar, Stefan M Pfister, Eric Bouffet, Paul A Northcott, David T W Jones, Annie Huang,

Recent genomic studies have shed light on the biology and inter-tumoral heterogeneity underlying pineal parenchymal tumors, in particular pineoblastomas (PBs) and pineal parenchymal tumors of intermediate differentiation (PPTIDs). Previous reports, however, had modest sample sizes and lacked the power to integrate molecular and clinical findings. The different proposed molecular group ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2021, :]

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Association of Initial β-Amyloid Levels With Subsequent Flortaucipir Positron Emission Tomography Changes in Persons Without Cognitive Impairment.

David S Knopman, Emily S Lundt, Terry M Therneau, Sabrina M Albertson, Jeffrey L Gunter, Matthew L Senjem, Christopher G Schwarz, Michelle M Mielke, Mary M Machulda, Bradley F Boeve, David T Jones, Jon Graff-Radford, Prashanthi Vemuri, Kejal Kantarci, Val J Lowe, Ronald C Petersen, Clifford R Jack, ,

<h4>Importance</h4>Tau accumulation in Alzheimer disease (AD) is closely associated with cognitive impairment. Quantitating tau accumulation by positron emission tomography (PET) will be a useful outcome measure for future clinical trials in the AD spectrum.<h4>Objective</h4>To investigate the association of β-amyloid (Aβ) on PET with subsequent tau accumulation on PET in persons ... Read more >>

JAMA Neurol (JAMA neurology)
[2021, 78(2):217-228]

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Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1).

Michael J Fisher, David T W Jones, Yimei Li, Xiaofan Guo, Poonam S Sonawane, Angela J Waanders, Joanna J Phillips, William A Weiss, Adam C Resnick, Sara Gosline, Jineta Banerjee, Justin Guinney, Astrid Gnekow, Daniela Kandels, Nicholas K Foreman, Andrey Korshunov, Marina Ryzhova, Luca Massimi, Sri Gururangan, Mark W Kieran, Zhihong Wang, Maryam Fouladi, Mariko Sato, Ingrid Øra, Stefan Holm, Stephen J Markham, Pengbo Beck, Natalie Jäger, Andrea Wittmann, Alexander C Sommerkamp, Felix Sahm, Stefan M Pfister, David H Gutmann,

Low-grade gliomas (LGGs) are the most common childhood brain tumor in the general population and in individuals with the Neurofibromatosis type 1 (NF1) cancer predisposition syndrome. Surgical biopsy is rarely performed prior to treatment in the setting of NF1, resulting in a paucity of tumor genomic information. To define the ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2021, :]

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Tau and Amyloid Relationships with Resting-state Functional Connectivity in Atypical Alzheimer's Disease.

Irene Sintini, Jonathan Graff-Radford, David T Jones, Hugo Botha, Peter R Martin, Mary M Machulda, Christopher G Schwarz, Matthew L Senjem, Jeffrey L Gunter, Clifford R Jack, Val J Lowe, Keith A Josephs, Jennifer L Whitwell,

The mechanisms through which tau and amyloid-beta (Aβ) accumulate in the brain of Alzheimer's disease patients may differ but both are related to neuronal networks. We examined such mechanisms on neuroimaging in 58 participants with atypical Alzheimer's disease (posterior cortical atrophy or logopenic progressive aphasia). Participants underwent Aβ-PET, longitudinal tau-PET, ... Read more >>

Cereb Cortex (Cerebral cortex (New York, N.Y. : 1991))
[2021, 31(3):1693-1706]

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Clinical Outcomes and Patient-Matched Molecular Composition of Relapsed Medulloblastoma.

Rahul Kumar, Kyle S Smith, Maximilian Deng, Colt Terhune, Giles W Robinson, Brent A Orr, Anthony P Y Liu, Tong Lin, Catherine A Billups, Murali Chintagumpala, Daniel C Bowers, Timothy E Hassall, Jordan R Hansford, Dong Anh Khuong-Quang, John R Crawford, Anne E Bendel, Sridharan Gururangan, Kristin Schroeder, Eric Bouffet, Ute Bartels, Michael J Fisher, Richard Cohn, Sonia Partap, Stewart J Kellie, Geoffrey McCowage, Arnold C Paulino, Stefan Rutkowski, Gudrun Fleischhack, Girish Dhall, Laura J Klesse, Sarah Leary, Javad Nazarian, Marcel Kool, Pieter Wesseling, Marina Ryzhova, Olga Zheludkova, Andrey V Golanov, Roger E McLendon, Roger J Packer, Christopher Dunham, Juliette Hukin, Maryam Fouladi, Claudia C Faria, Jose Pimentel, Andrew W Walter, Nada Jabado, Yoon-Jae Cho, Sebastien Perreault, Sidney E Croul, Michal Zapotocky, Cynthia Hawkins, Uri Tabori, Michael D Taylor, Stefan M Pfister, Paul Klimo, Frederick A Boop, David W Ellison, Thomas E Merchant, Arzu Onar-Thomas, Andrey Korshunov, David T W Jones, Amar Gajjar, Vijay Ramaswamy, Paul A Northcott,

<h4>Purpose</h4>We sought to investigate clinical outcomes of relapsed medulloblastoma and to compare molecular features between patient-matched diagnostic and relapsed tumors.<h4>Methods</h4>Children and infants enrolled on either SJMB03 (NCT00085202) or SJYC07 (NCT00602667) trials who experienced medulloblastoma relapse were analyzed for clinical outcomes, including anatomic and temporal patterns of relapse and postrelapse survival. ... Read more >>

J Clin Oncol (Journal of clinical oncology : official journal of the American Society of Clinical Oncology)
[2021, :JCO2001359]

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H3.3-K27M drives neural stem cell-specific gliomagenesis in a human iPSC-derived model.

Daniel Haag, Norman Mack, Patricia Benites Goncalves da Silva, Britta Statz, Jessica Clark, Koji Tanabe, Tanvi Sharma, Natalie Jäger, David T W Jones, Daisuke Kawauchi, Marius Wernig, Stefan M Pfister,

Diffuse intrinsic pontine glioma (DIPG) is an aggressive childhood tumor of the brainstem with currently no curative treatment available. The vast majority of DIPGs carry a histone H3 mutation leading to a lysine 27-to-methionine exchange (H3K27M). We engineered human induced pluripotent stem cells (iPSCs) to carry an inducible H3.3-K27M allele ... Read more >>

Cancer Cell (Cancer cell)
[2021, :]

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Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation.

Andrey Korshunov, Konstantin Okonechnikov, Felix Schmitt-Hoffner, Marina Ryzhova, Felix Sahm, Damian Stichel, Daniel Schrimpf, David E Reuss, Philipp Sievers, Abigail Kora Suwala, Ella Kumirova, Olga Zheludkova, Andrey Golanov, David T W Jones, Stefan M Pfister, Marcel Kool, Andreas von Deimling,

Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly malignant neoplasms posing diagnostic challenge due to a lack of defining molecular markers. CNS neuroblastoma with forkhead box R2 (FOXR2) activation (CNS_NBL) emerged as a distinct pediatric brain tumor entity from a pool previously diagnosed as primitive neuroectodermal tumors ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2021, 9(1):20]

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Sarcoma classification by DNA methylation profiling.

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

Sarcomas are malignant soft tissue and bone tumours affecting adults, adolescents and children. They represent a morphologically heterogeneous class of tumours and some entities lack defining histopathological features. Therefore, the diagnosis of sarcomas is burdened with a high inter-observer variability and misclassification rate. Here, we demonstrate classification of soft tissue ... Read more >>

Nat Commun (Nature communications)
[2021, 12(1):498]

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A subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR.

Philipp Sievers, Martin Sill, Daniel Schrimpf, Damian Stichel, David E Reuss, Dominik Sturm, Jürgen Hench, Stephan Frank, Lenka Krskova, Ales Vicha, Michal Zapotocky, Brigitte Bison, David Castel, Jacques Grill, Marie-Anne Debily, Patrick N Harter, Matija Snuderl, Christof M Kramm, Guido Reifenberger, Andrey Korshunov, Nada Jabado, Pieter Wesseling, Wolfgang Wick, David A Solomon, Arie Perry, Thomas S Jacques, Chris Jones, Olaf Witt, Stefan M Pfister, Andreas von Deimling, David T W Jones, Felix Sahm,

<h4>Background</h4>Malignant astrocytic gliomas in children show a remarkable biological and clinical diversity. Small in-frame insertions or missense mutations in the epidermal growth factor receptor gene (EGFR) have recently been identified in a distinct subset of pediatric-type bithalamic gliomas with a unique DNA methylation pattern.<h4>Methods</h4>Here, we investigated an epigenetically homogeneous cohort ... Read more >>

Neuro Oncol (Neuro-oncology)
[2021, 23(1):34-43]

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Cerebrospinal Fluid Penetration and Combination Therapy of Entrectinib for Disseminated ROS1/NTRK-Fusion Positive Pediatric High-Grade Glioma.

Lisa Mayr, Armin S Guntner, Sibylle Madlener, Maria T Schmook, Andreas Peyrl, Amedeo A Azizi, Karin Dieckmann, Dominik Reisinger, Natalia M Stepien, Kathrin Schramm, Anna Laemmerer, David T W Jones, Jonas Ecker, Felix Sahm, Till Milde, Kristian W Pajtler, Mirjam Blattner-Johnson, Miroslav Strbac, Christian Dorfer, Thomas Czech, Dominik Kirchhofer, Lisa Gabler, Walter Berger, Christine Haberler, Leonhard Müllauer, Wolfgang Buchberger, Irene Slavc, Daniela Lötsch-Gojo, Johannes Gojo,

Targeting oncogenic fusion-genes in pediatric high-grade gliomas (pHGG) with entrectinib has emerged as a highly promising therapeutic approach. Despite ongoing clinical studies, to date, no reports on the treatment of cerebrospinal fluid (CSF) disseminated fusion-positive pHGG exist. Moreover, clinically important information of combination with other treatment modalities such as intrathecal ... Read more >>

J Pers Med (Journal of personalized medicine)
[2020, 10(4):]

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Accurate calling of KIAA1549-BRAF fusions from DNA of human brain tumours using methylation array-based copy number and gene panel sequencing data.

Damian Stichel, Daniel Schrimpf, Philipp Sievers, Annekathrin Reinhardt, Abigail K Suwala, Martin Sill, David E Reuss, Andrey Korshunov, Belén M Casalini, Alexander C Sommerkamp, Jonas Ecker, Florian Selt, Dominik Sturm, Astrid Gnekow, Arend Koch, Michèle Simon, Pablo Hernáiz Driever, Ulrich Schüller, David Capper, Cornelis M van Tilburg, Olaf Witt, Till Milde, Stefan M Pfister, David T W Jones, Andreas von Deimling, Felix Sahm, Annika K Wefers,

<h4>Aims</h4>KIAA1549-BRAF fusions occur in certain brain tumours and provide druggable targets due to a constitutive activation of the MAP-kinase pathway. We introduce workflows for calling the KIAA1549-BRAF fusion from DNA methylation array-derived copy number as well as DNA panel sequencing data.<h4>Methods</h4>Copy number profiles were analysed by automated screening and visual ... Read more >>

Neuropathol Appl Neurobiol (Neuropathology and applied neurobiology)
[2020, :]

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MBCL-09. ISOLATED M1 METASTASES IN PEDIATRIC MEDULLOBLASTOMA: IS POSTOPERATIVE RADIOTHERAPY FOLLOWED BY MAINTENANCE CHEMOTHERAPY SUPERIOR TO POSTOPERATIVE SANDWICH-CHEMOTHERAPY AND RADIOTHERAPY?

Denise Obrecht, Martin Mynarek, Christian Hagel, Robert Kwiecien, Michael Spohn, Michael L Bockmayr, Brigitte Bison, Monika Warmuth-Metz, Stefan M Pfister, David T W Jones, Dominik Sturm, Andreas von Deimling, Felix Sahm, Katja von Hoff, B - Ole Juhnke, Martin Benesch, Nicolas U Gerber, André O von Bueren, Carsten Friedrich, Rolf-Dieter Kortmann, Rudolf Schwarz, Torsten Pietsch, Stefan Rutkowski,

Abstract <h4>BACKGROUND</h4> Impact of isolated spread into the cerebrospinal fluid (CSF) is still not investigated comprehensively for childhood medulloblastoma and the best therapeutic strategy is currently unclear. MATERIAL AND <h4>METHODS</h4> Sixty-six patients with isolated M1-MB registered to the HIT-MED-database from 2000–2018 were identified. CSF and MRI were centrally reviewed for ... Read more >>

Neuro Oncol (Neuro-oncology)
[2020, 22(Suppl 3):iii389-iii389]

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MODL-11. COMPARISON OF HUMAN & MURINE PA/PXA CHARACTERISTICS

Alexander C Sommerkamp, Pengbo Sun, Annika K Wefers, Britta Ismer, Kathrin Schramm, Andrea Wittmann, Jan Gronych, Andrey Korshunov, Andreas von Deimling, Natalie Jäger, Stefan M Pfister, David T W Jones,

Abstract Pediatric low-grade gliomas (pLGGs) are the most common brain tumors in children. Despite recent advances in the molecular characterization of this heterogeneous set of tumors, the separation of specific tumor types is still not fully established. Pilocytic astrocytoma (PA; WHO grade I) and pleomorphic xanthoastrocytoma (PXA; WHO grade II) ... Read more >>

Neuro Oncol (Neuro-oncology)
[2020, 22(Suppl 3):iii413-iii413]

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ETMR-21. META-ANALYSIS OF PINEAL REGION TUMOURS DEMONSTRATES MOLECULAR SUBGROUPS WITH DISTINCT CLINICO-PATHOLOGICAL FEATURES: A CONSENSUS STUDY

Bryan K Li, Anthony P Y Liu, Elke Pfaff, Brian Gudenas, Sivan Gershanov, Christelle Dufour, Christian Aichmüller, Martin Sill, Tong Lin, Arzu Onar-Thomas, Brent A Orr, Cynthia Hawkins, David W Ellison, Matija Snuderl, Annie Laquierre, Eugene Hwang, Sri Gururangan, Matthias A Karajannis, Giles W Robinson, Eric Bouffet, Alexandre Vasiljevic, Amar Gajjar, Stefan M Pfister, Paul A Northcott, David T W Jones, Annie Huang,

Abstract Pineoblastomas (PB) are rare, aggressive pineal gland tumours with poor global OS of 50–70% and only 15–49% OS for patients <4 years, despite intensive treatments. Recently, three independent groups (German Cancer Research Centre, Rare Brain Tumour Consortium/SickKids, St. Jude Children’s Research Hospital) collectively analyzed large tumour cohorts and revealed ... Read more >>

Neuro Oncol (Neuro-oncology)
[2020, 22(Suppl 3):iii327-iii327]

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Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1.

Philipp Sievers, Martin Sill, Christina Blume, Arnault Tauziede-Espariat, Daniel Schrimpf, Damian Stichel, David E Reuss, Helin Dogan, Christian Hartmann, Christian Mawrin, Martin Hasselblatt, Walter Stummer, Uta Schick, Jürgen Hench, Stephan Frank, Ralf Ketter, Leonille Schweizer, Jens Schittenhelm, Stéphanie Puget, Sebastian Brandner, Zane Jaunmuktane, Benno Küsters, Zied Abdullaev, Melike Pekmezci, Matija Snuderl, Miriam Ratliff, Christel Herold-Mende, Andreas Unterberg, Kenneth Aldape, David W Ellison, Pieter Wesseling, Guido Reifenberger, Wolfgang Wick, Arie Perry, Pascale Varlet, Stefan M Pfister, David T W Jones, Andreas von Deimling, Felix Sahm, ,

Clear cell meningioma represents an uncommon variant of meningioma that typically affects children and young adults. Although an enrichment of loss-of-function mutations in the SMARCE1 gene has been reported for this subtype, comprehensive molecular investigations are lacking. Here we describe a molecularly distinct subset of tumors (n = 31), initially identified through ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2021, 141(2):281-290]

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Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis.

Carol C L Chen, Shriya Deshmukh, Selin Jessa, Djihad Hadjadj, Véronique Lisi, Augusto Faria Andrade, Damien Faury, Wajih Jawhar, Rola Dali, Hiromichi Suzuki, Manav Pathania, Deli A, Frank Dubois, Eleanor Woodward, Steven Hébert, Marie Coutelier, Jason Karamchandani, Steffen Albrecht, Sebastian Brandner, Nicolas De Jay, Tenzin Gayden, Andrea Bajic, Ashot S Harutyunyan, Dylan M Marchione, Leonie G Mikael, Nikoleta Juretic, Michele Zeinieh, Caterina Russo, Nicola Maestro, Angelia V Bassenden, Peter Hauser, József Virga, Laszlo Bognar, Almos Klekner, Michal Zapotocky, Ales Vicha, Lenka Krskova, Katerina Vanova, Josef Zamecnik, David Sumerauer, Paul G Ekert, David S Ziegler, Benjamin Ellezam, Mariella G Filbin, Mathieu Blanchette, Jordan R Hansford, Dong-Anh Khuong-Quang, Albert M Berghuis, Alexander G Weil, Benjamin A Garcia, Livia Garzia, Stephen C Mack, Rameen Beroukhim, Keith L Ligon, Michael D Taylor, Pratiti Bandopadhayay, Christoph Kramm, Stefan M Pfister, Andrey Korshunov, Dominik Sturm, David T W Jones, Paolo Salomoni, Claudia L Kleinman, Nada Jabado,

Histone H3.3 glycine 34 to arginine/valine (G34R/V) mutations drive deadly gliomas and show exquisite regional and temporal specificity, suggesting a developmental context permissive to their effects. Here we show that 50% of G34R/V tumors (n = 95) bear activating PDGFRA mutations that display strong selection pressure at recurrence. Although considered gliomas, ... Read more >>

Cell (Cell)
[2020, 183(6):1617-1633.e22]

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LGG-14. MULTI-OMIC ANALYSIS OF MAPK ACTIVATION IN PEDIATRIC PILOCYTIC ASTROCYTOMA

Romain Sigaud, Florian Selt, Thomas Hielscher, Nina Overbeck, Diren Usta, Marc Remke, Daniel Picard, Stephan M Pfister, David T W Jones, Tilman Brummer, Olaf Witt, Till Milde,

Abstract Pilocytic astrocytomas (PA) are low-grade gliomas (pLGG) and are the most frequent childhood brain tumors. They are characterized by oncogene-induced senescence (OIS) initiated and sustained by senescence-associated secretory phenotype (SASP) factors. OIS and SASP in PA are thought to be driven by aberrations of the mitogen-activated protein kinase (MAPK) ... Read more >>

Neuro Oncol (Neuro-oncology)
[2020, 22(Suppl 3):iii368-iii368]

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MBRS-68. SINGLE NUCLEUS RNA-SEQUENCING DECIPHERS INTRATUMORAL HETEROGENEITY IN MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY (MBEN)

David N Ghasemi, Konstantin Okonechnikov, Jan-Philipp Malm, Kati Lappalainen, Katharina Bauer, Michelle S Liberio, Laura Giese, Kendra K Maass, Marcel Kool, David T W Jones, Andreas von Deimling, Stefan M Pfister, Andrey Korshunov, Kristian W Pajtler,

Abstract Medulloblastoma (MB) with extensive nodularity (MBEN) represent a rare subtype of cerebellar tumors of infancy which comprise two histologically distinct components, nodular reticulin-free zones and inter-nodular reticulin-rich regions. We applied single nucleus RNA-sequencing (snRNA-seq) using the 10X Genomics and the SMARTseq V2 protocols, bulk RNA-sequencing, DNA-methylation profiling and DNA-panel ... Read more >>

Neuro Oncol (Neuro-oncology)
[2020, 22(Suppl 3):iii410-iii410]

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LGG-35. FUNCTIONAL GENOMIC APPROACHES TO IDENTIFY THERAPEUTIC TARGETS IN MYB AND MYBL1 EXPRESSING PEDIATRIC LOW-GRADE GLIOMAS

Alexandra-Larisa Condurat, Annika Wefers, Elizabeth Gonzalez, Jeyna Doshi, Prasidda Khadka, Selin Jessa, Jessica Tsai, Graham Buchan, Cecile Rouleau, Tanaz Abid, Amy Goodale, Nicole Persky, Rameen Beroukhim, David Root, Keith Ligon, Nada Jabado, Clauda L Kleinman, Federica Piccioni, David T W Jones, Pratiti Bandopadhayay,

Abstract <h4>AIM</h4> Recurrent structural variants involving MYB and MYBL1 transcription factors were recently identified in pediatric low-grade gliomas (pLGGs), such as the MYB-QKI rearrangement in Angiocentric Gliomas and truncations of MYBL1 (MYBL1tr) in Diffuse Astrocytomas. However, therapeutic dependencies induced by these alterations remain unexplored. <h4>METHODOLOGY</h4> We have generated in vitro ... Read more >>

Neuro Oncol (Neuro-oncology)
[2020, 22(Suppl 3):iii373-iii373]

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MBCL-21. GERMLINE ELONGATOR MUTATIONS IN SONIC HEDGEHOG MEDULLOBLASTOMA

Giles W Robinson, Sebastian M Waszak, Brian L Gudenas, Kyle S Smith, Antoine Forget, Marija Kojic, Garcia-Lopez Jesus, Jennifer Hadley, Kayla V Hamilton, Emilie Indersie, Ivo Buchhalter, Natalie Jager, Tanvi Sharma, Tobias Rausch, Marcel Kool, Dominic Sturm, David T W Jones, Ruth Tatevossian, Berangere Lombard, Damarys Loew, Daniel Bowers, Anne Bendel, Sonia Partap, Murali Chintagumpala, John Crawford, Nicholas G Gottardo, Amy Smith, Christelle Dufour, Stefan Rutkowski, Michael Grotzer, Mark Remke, Stephanie Puget, Kristian W Pajtler, Till Milde, Olaf Witt, Marina Ryzhova, Andrey Korshunov, Brent A Orr, David W Ellison, Laurence Brugieres, Peter Lichter, Kim E Nichols, Amar Gajjar, Brandon J Wainwright, Olivier Ayrault, Jan O Korbel, Paul A Northcott, Stefan M Pfister,

Abstract <h4>BACKGROUND</h4> Our previous analysis of established cancer predisposition genes in medulloblastoma (MB) identified pathogenic germline variants in ~5% of all patients. Here, we extended our analysis to include all protein-coding genes. <h4>METHODS</h4> Case-control analysis performed on 795 MB patients against >118,000 cancer-free children and adults was performed to identify ... Read more >>

Neuro Oncol (Neuro-oncology)
[2020, 22(Suppl 3):iii392-iii393]

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PATH-11. PROSPECTIVE (EPI-)GENETIC CLASSIFICATION OF > 1,000 PEDIATRIC CNS TUMORS—THE MNP 2.0 STUDY

Dominik Sturm, Felix Sahm, Felipe Andreiuolo, David Capper, Marco Gessi, Agata Rode, Brigitte Bison, Steffen Hirsch, Nicolas U Gerber, Nicholas G Gottardo, Christof M Kramm, Stefan Rutkowski, Andreas von Deimling, Torsten Pietsch, Stefan M Pfister, David T W Jones,

Abstract The large variety of CNS tumor entities affecting children and adolescents, some of which are exceedingly rare, results in very diverging patient outcomes and renders accurate diagnosis challenging. To assess the diagnostic utility of routine DNA methylation-based CNS tumor classification and gene panel sequencing, the Molecular Neuropathology 2.0 study ... Read more >>

Neuro Oncol (Neuro-oncology)
[2020, 22(Suppl 3):iii426-iii426]

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PATH-26. RNA SEQUENCING OF FORMALIN-FIXED PARAFFIN-EMBEDDED SPECIMENS IN DIAGNOSTIC ROUTINE IDENTIFIES CLINICALLY RELEVANT GENE FUSIONS

Damian Stichel, Daniel Schrimpf, Jochen Meyer, Annika Wefers, Philipp Sievers, Stefan M Pfister, Wolfgang Wick, David T W Jones, Andreas von Deimling, Felix Sahm,

Abstract Pediatric brain tumor entities harbor a variety of gene fusions. Whilst other molecular parameters like somatic mutations and copy number alterations have become pivotal for brain tumor diagnostics, gene fusions are only less well covered by routinely applied methylation arrays or targeted next-generation sequencing of DNA. In a routine ... Read more >>

Neuro Oncol (Neuro-oncology)
[2020, 22(Suppl 3):iii429-iii430]

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LGG-17. SYNERGISTIC ACTIVITY OF MAPK INHIBITOR CLASSES REVEALED BY A NOVEL CELL-BASED MAPK ACTIVITY PEDIATRIC LOW-GRADE GLIOMA ASSAY

Diren Usta, Romain Sigaud, Juliane L Buhl, Florian Selt, Viktoria Marquardt, David Pauck, Stefan Pusch, Jonas Ecker, Thomas Hielscher, Johanna Vollmer, Alexander C Sommerkamp, Tobias Rubner, Darren Hargrave, Cornelis M van Tilburg, Stefan M Pfister, David T W Jones, Marc Remke, Tilman Brummer, Olaf Witt, Till Milde,

Abstract Pilocytic astrocytomas (PAs) and other pediatric low-grade gliomas (pLGGs) exhibit aberrant activation of the MAPK signaling pathway caused by genetic alterations, most commonly KIAA1549:BRAF fusions, BRAF V600E and NF1 mutations. In such a single-pathway disease, novel drugs targeting the MAPK pathway (MAPKi) are prime candidates for treatment. We developed ... Read more >>

Neuro Oncol (Neuro-oncology)
[2020, 22(Suppl 3):iii369-iii369]

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