604 results on '"Karajannis, Matthias A."'
Search Results
2. Selective nitration of Hsp90 acts as a metabolic switch promoting tumor cell proliferation
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Logan, Isabelle E., Nguyen, Kyle T., Chatterjee, Tilottama, Manivannan, Bhagyashree, Paul, Ngozi P., Kim, Sharon R., Sixta, Evelyn M., Bastian, Lydia P., Marean-Reardon, Carrie, Karajannis, Matthias A., Fernández-Valle, Cristina, Estevez, Alvaro G., and Franco, Maria Clara
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- 2024
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3. Molecular profiling of pediatric meningiomas shows tumor characteristics distinct from adult meningiomas
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Kirches, Elmar, Sahm, Felix, Korshunov, Andrey, Bluecher, Christina, Waldt, Natalie, Kropf, Siegfried, Schrimpf, Daniel, Sievers, Philipp, Stichel, Damian, Schüller, Ulrich, Schittenhelm, Jens, Riemenschneider, Markus J, Karajannis, Matthias A, Perry, Arie, Pietsch, Torsten, Boekhoff, Svenja, Capper, David, Beck, Katja, Paramasivam, Nagarajan, Schlesner, Matthias, Brastianos, Priscilla K, Müller, Hermann L, Pfister, Stefan M, and Mawrin, Christian
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Cancer ,Pediatric ,Human Genome ,Brain Cancer ,Pediatric Research Initiative ,Rare Diseases ,Brain Disorders ,Genetics ,Adolescent ,Adult ,Child ,Child ,Preschool ,Female ,Gene Expression Profiling ,Humans ,Male ,Meningeal Neoplasms ,Meningioma ,Transcriptome ,Methylation profile ,Targeted sequencing ,NF2 ,Clinical Sciences ,Neurosciences ,Neurology & Neurosurgery - Abstract
In contrast to adults, meningiomas are uncommon tumors in childhood and adolescence. Whether adult and pediatric meningiomas differ on a molecular level is unclear. Here we report detailed genomic analyses of 37 pediatric meningiomas by sequencing and DNA methylation profiling. Histologically, the series was dominated by meningioma subtypes with aggressive behavior, with 70% of patients suffering from WHO grade II or III meningiomas. The most frequent cytogenetic aberrations were loss of chromosomes 22 (23/37 [62%]), 1 (9/37 [24%]), 18 (7/37 [19%]), and 14 (5/37 [14%]). Tumors with NF2 alterations exhibited overall increased chromosomal instability. Unsupervised clustering of DNA methylation profiles revealed separation into three groups: designated group 1 composed of clear cell and papillary meningiomas, whereas group 2A comprised predominantly atypical meningiomas and group 2B enriched for rare high-grade subtypes (rhabdoid, chordoid). Meningiomas from NF2 patients clustered exclusively within groups 1 and 2A. When compared with a dataset of 105 adult meningiomas, the pediatric meningiomas largely grouped separately. Targeted panel DNA sequencing of 34 tumors revealed frequent NF2 alterations, while other typical alterations found in adult non-NF2 tumors were absent. These data demonstrate that pediatric meningiomas are characterized by molecular features distinct from adult tumors.
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- 2021
4. Treatment of Pediatric Low-Grade Gliomas
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Sait, Sameer Farouk, Giantini-Larsen, Alexandra M., Tringale, Kathryn R., Souweidane, Mark M., and Karajannis, Matthias A.
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- 2023
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5. Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors
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Fiala, Elise M, Jayakumaran, Gowtham, Mauguen, Audrey, Kennedy, Jennifer A, Bouvier, Nancy, Kemel, Yelena, Fleischut, Megan Harlan, Maio, Anna, Salo-Mullen, Erin E, Sheehan, Margaret, Arnold, Angela G, Latham, Alicia, Carlo, Maria I, Cadoo, Karen, Murkherjee, Semanti, Slotkin, Emily K, Trippett, Tanya, Glade Bender, Julia, Meyers, Paul A, Wexler, Leonard, Dela Cruz, Filemon S, Cheung, Nai-Kong, Basu, Ellen, Kentsis, Alex, Ortiz, Michael, Francis, Jasmine H, Dunkel, Ira J, Khakoo, Yasmin, Gilheeney, Stephen, Farouk Sait, Sameer, Forlenza, Christopher J, Sulis, Maria, Karajannis, Matthias, Modak, Shakeel, Gerstle, Justin T, Heaton, Todd E, Roberts, Stephen, Yang, Ciyu, Jairam, Sowmya, Vijai, Joseph, Topka, Sabine, Friedman, Danielle N, Stadler, Zsofia K, Robson, Mark, Berger, Michael F, Schultz, Nikolaus, Ladanyi, Marc, O’Reilly, Richard J, Abramson, David H, Ceyhan-Birsoy, Ozge, Zhang, Liying, Mandelker, Diana, Shukla, Neerav N, Kung, Andrew L, Offit, Kenneth, Zehir, Ahmet, and Walsh, Michael F
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Rare Diseases ,Genetic Testing ,Genetics ,Pediatric ,Human Genome ,Clinical Research ,Pediatric Cancer ,Cancer ,Aetiology ,2.1 Biological and endogenous factors ,Detection ,screening and diagnosis ,4.2 Evaluation of markers and technologies ,Good Health and Well Being ,Child ,Genetic Predisposition to Disease ,Germ Cells ,Germ-Line Mutation ,Humans ,Neoplasms ,Prospective Studies - Abstract
The spectrum of germline predisposition in pediatric cancer continues to be realized. Here we report 751 solid tumor patients who underwent prospective matched tumor-normal DNA sequencing and downstream clinical use (clinicaltrials.gov NCT01775072). Germline pathogenic and likely pathogenic (P/LP) variants were reported. One or more P/LP variants were found in 18% (138/751) of individuals when including variants in low, moderate, and high penetrance dominant or recessive genes, or 13% (99/751) in moderate and high penetrance dominant genes. 34% of high or moderate penetrance variants were unexpected based on the patient's diagnosis and previous history. 76% of patients with positive results completed a clinical genetics visit, and 21% had at least one relative undergo cascade testing as a result of this testing. Clinical actionability additionally included screening, risk reduction in relatives, reproductive use, and use of targeted therapies. Germline testing should be considered for all children with cancer.
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- 2021
6. Outcomes of intraventricular 131-I-omburtamab and external beam radiotherapy in patients with recurrent medulloblastoma and ependymoma
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Tringale, Kathryn R., Wolden, Suzanne L., Karajannis, Matthias, Haque, Sofia, Pasquini, Luca, Yildirim, Onur, Rosenblum, Marc, Benhamida, Jamal K., Cheung, Nai-Kong, Souweidane, Mark, Basu, Ellen M., Pandit-Taskar, Neeta, Zanzonico, Pat B., Humm, John L., and Kramer, Kim
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- 2023
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7. Pediatric and adult H3 K27M-mutant diffuse midline glioma treated with the selective DRD2 antagonist ONC201.
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Chi, Andrew, Tarapore, Rohinton, Hall, Matthew, Shonka, Nicole, Gardner, Sharon, Umemura, Yoshie, Sumrall, Ashley, Khatib, Ziad, Mueller, Sabine, Kline, Cassie, Zaky, Wafik, Khatua, Soumen, Weathers, Shiao-Pei, Odia, Yazmin, Niazi, Toba, Daghistani, Doured, Cherrick, Irene, Korones, David, Karajannis, Matthias, Kong, Xiao-Tang, Minturn, Jane, Waanders, Angela, Arillaga-Romany, Isabel, Batchelor, Tracy, Wen, Patrick, Merdinger, Krystal, Schalop, Lee, Stogniew, Martin, Allen, Joshua, Oster, Wolfgang, and Mehta, Minesh
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Adult ,DRD2 antagonist ,Diffuse intrinsic pontine ,Diffuse midline ,Glioma ,H3 K27M ,ONC201 ,Pediatric ,Radiation ,Adolescent ,Adult ,Antineoplastic Agents ,Brain Neoplasms ,Child ,Child ,Preschool ,Female ,Follow-Up Studies ,Glioma ,Heterocyclic Compounds ,4 or More Rings ,Histones ,Humans ,Imidazoles ,Male ,Mutation ,Prognosis ,Pyridines ,Pyrimidines ,Receptors ,Dopamine D2 ,Survival Rate ,Young Adult - Abstract
BACKGROUND: H3 K27M-mutant diffuse midline glioma is a fatal malignancy with no proven medical therapies. The entity predominantly occurs in children and young adults. ONC201 is a small molecule selective antagonist of dopamine receptor D2/3 (DRD2/3) with an exceptional safety profile. Following up on a durable response in the first H3 K27M-mutant diffuse midline glioma patient who received ONC201 (NCT02525692), an expanded access program was initiated. METHODS: Patients with H3 K27M-mutant gliomas who received at least prior radiation were eligible. Patients with leptomeningeal spread were excluded. All patients received open-label ONC201 orally once every week. Safety, radiographic assessments, and overall survival were regularly assessed at least every 8 weeks by investigators. As of August 2018, a total of 18 patients with H3 K27M-mutant diffuse midline glioma or DIPG were enrolled to single patient expanded access ONC201 protocols. Among the 18 patients: seven adult (> 20 years old) and seven pediatric (< 20 years old) patients initiated ONC201 with recurrent disease and four pediatric patients initiated ONC201 following radiation, but prior to disease recurrence. FINDINGS: Among the 14 patients with recurrent disease prior to initiation of ONC201, median progression-free survival is 14 weeks and median overall survival is 17 weeks. Three adults among the 14 recurrent patients remain on treatment progression-free with a median follow up of 49.6 (range 41-76.1) weeks. Among the 4 pediatric patients who initiated adjuvant ONC201 following radiation, two DIPG patients remain progression-free for at least 53 and 81 weeks. Radiographic regressions, including a complete response, were reported by investigators in a subset of patients with thalamic and pontine gliomas, along with improvements in disease-associated neurological symptoms. INTERPRETATION: The clinical outcomes and radiographic responses in these patients provide the preliminary, and initial clinical proof-of-concept for targeting H3 K27M-mutant diffuse midline glioma with ONC201, regardless of age or location, providing rationale for robust clinical testing of the agent.
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- 2019
8. Craniospinal irradiation and/or intraventricular radioimmunotherapy after high‐dose chemotherapy and autologous stem cell rescue in patients with CNS retinoblastoma—Safety and outcomes.
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Sait, Sameer Farouk, Kernan, Nancy A., Klein, Elizabeth, Spitzer, Barbara, Levy, Carolyn Fein, Fish, Jonathan, Yildirim, Onur, Haque, Sofia, Donzelli, Maria, Bernot, Mauricio Rendon, Abramson, David H., Francis, Jasmine H., Khakoo, Yasmin, Karajannis, Matthias, Sands, Stephen, Pandit‐Taskar, Neeta, Wolden, Suzanne, Kramer, Kim, and Dunkel, Ira J.
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- 2024
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9. Prospective feasibility and safety assessment of surgical biopsy for patients with newly diagnosed diffuse intrinsic pontine glioma.
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Gupta, Nalin, Goumnerova, Liliana C, Manley, Peter, Chi, Susan N, Neuberg, Donna, Puligandla, Maneka, Fangusaro, Jason, Goldman, Stewart, Tomita, Tadanori, Alden, Tord, DiPatri, Arthur, Rubin, Joshua B, Gauvain, Karen, Limbrick, David, Leonard, Jeffrey, Geyer, J Russel, Leary, Sarah, Browd, Samuel, Wang, Zhihong, Sood, Sandeep, Bendel, Anne, Nagib, Mahmoud, Gardner, Sharon, Karajannis, Matthias A, Harter, David, Ayyanar, Kanyalakshmi, Gump, William, Bowers, Daniel C, Weprin, Bradley, MacDonald, Tobey J, Aguilera, Dolly, Brahma, Barunashish, Robison, Nathan J, Kiehna, Erin, Krieger, Mark, Sandler, Eric, Aldana, Philipp, Khatib, Ziad, Ragheb, John, Bhatia, Sanjiv, Mueller, Sabine, Banerjee, Anu, Bredlau, Amy-Lee, Gururangan, Sri, Fuchs, Herbert, Cohen, Kenneth J, Jallo, George, Dorris, Kathleen, Handler, Michael, Comito, Melanie, Dias, Mark, Nazemi, Kellie, Baird, Lissa, Murray, Jeff, Lindeman, Neal, Hornick, Jason L, Malkin, Hayley, Sinai, Claire, Greenspan, Lianne, Wright, Karen D, Prados, Michael, Bandopadhayay, Pratiti, Ligon, Keith L, and Kieran, Mark W
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Brain Disorders ,Genetics ,Patient Safety ,Neurosciences ,Brain Cancer ,Cancer ,Clinical Research ,Rare Diseases ,4.2 Evaluation of markers and technologies ,Detection ,screening and diagnosis ,Adolescent ,Biopsy ,Brain Stem Neoplasms ,Child ,Child ,Preschool ,Feasibility Studies ,Female ,Follow-Up Studies ,Glioma ,Humans ,Magnetic Resonance Imaging ,Male ,Morbidity ,Prognosis ,Prospective Studies ,bevacizumab ,DIPG ,erlotinib ,stereotactic biopsy ,temozolomide ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
Background:Diagnosis of diffuse intrinsic pontine glioma (DIPG) has relied on imaging studies, since the appearance is pathognomonic, and surgical risk was felt to be high and unlikely to affect therapy. The DIPG Biology and Treatment Study (DIPG-BATS) reported here incorporated a surgical biopsy at presentation and stratified subjects to receive FDA-approved agents chosen on the basis of specific biologic targets. Methods:Subjects were eligible for the trial if the clinical features and imaging appearance of a newly diagnosed tumor were consistent with a DIPG. Surgical biopsies were performed after enrollment and prior to definitive treatment. All subjects were treated with conventional external beam radiotherapy with bevacizumab, and then stratified to receive bevacizumab with erlotinib or temozolomide, both agents, or neither agent, based on O6-methylguanine-DNA methyltransferase status and epidermal growth factor receptor expression. Whole-genome sequencing and RNA sequencing were performed but not used for treatment assignment. Results:Fifty-three patients were enrolled at 23 institutions, and 50 underwent biopsy. The median age was 6.4 years, with 24 male and 29 female subjects. Surgical biopsies were performed with a specified technique and no deaths were attributed to the procedure. Two subjects experienced grade 3 toxicities during the procedure (apnea, n = 1; hypertension, n = 1). One subject experienced a neurologic deficit (left hemiparesis) that did not fully recover. Of the 50 tumors biopsied, 46 provided sufficient tissue to perform the study assays (92%, two-stage exact binomial 90% CI: 83%-97%). Conclusions:Surgical biopsy of DIPGs is technically feasible, associated with acceptable risks, and can provide biologic data that can inform treatment decisions.
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- 2018
10. Heterogeneity within the PF-EPN-B ependymoma subgroup
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Cavalli, Florence MG, Hübner, Jens-Martin, Sharma, Tanvi, Luu, Betty, Sill, Martin, Zapotocky, Michal, Mack, Stephen C, Witt, Hendrik, Lin, Tong, Shih, David JH, Ho, Ben, Santi, Mariarita, Emery, Lyndsey, Hukin, Juliette, Dunham, Christopher, McLendon, Roger E, Lipp, Eric S, Gururangan, Sridharan, Grossbach, Andrew, French, Pim, Kros, Johan M, van Veelen, Marie-Lise C, Rao, Amulya A Nageswara, Giannini, Caterina, Leary, Sarah, Jung, Shin, Faria, Claudia C, Mora, Jaume, Schüller, Ulrich, Alonso, Marta M, Chan, Jennifer A, Klekner, Almos, Chambless, Lola B, Hwang, Eugene I, Massimino, Maura, Eberhart, Charles G, Karajannis, Matthias A, Lu, Benjamin, Liau, Linda M, Zollo, Massimo, Ferrucci, Veronica, Carlotti, Carlos, Tirapelli, Daniela PC, Tabori, Uri, Bouffet, Eric, Ryzhova, Marina, Ellison, David W, Merchant, Thomas E, Gilbert, Mark R, Armstrong, Terri S, Korshunov, Andrey, Pfister, Stefan M, Taylor, Michael D, Aldape, Kenneth, Pajtler, Kristian W, Kool, Marcel, and Ramaswamy, Vijay
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Genetics ,Cancer ,Clinical Research ,Rare Diseases ,Human Genome ,Brain Cancer ,Brain Disorders ,Adolescent ,Adult ,Age Factors ,Child ,Cohort Studies ,DNA Copy Number Variations ,DNA Methylation ,Ependymoma ,Female ,Gene Expression Profiling ,Humans ,Infratentorial Neoplasms ,Kaplan-Meier Estimate ,Male ,Microarray Analysis ,Middle Aged ,Young Adult ,Posterior fossa ,Subgrouping ,PFB ,PFA ,Clustering ,Clinical Sciences ,Neurosciences ,Neurology & Neurosurgery - Abstract
Posterior fossa ependymoma comprise three distinct molecular variants, termed PF-EPN-A (PFA), PF-EPN-B (PFB), and PF-EPN-SE (subependymoma). Clinically, they are very disparate and PFB tumors are currently being considered for a trial of radiation avoidance. However, to move forward, unraveling the heterogeneity within PFB would be highly desirable. To discern the molecular heterogeneity within PFB, we performed an integrated analysis consisting of DNA methylation profiling, copy-number profiling, gene expression profiling, and clinical correlation across a cohort of 212 primary posterior fossa PFB tumors. Unsupervised spectral clustering and t-SNE analysis of genome-wide methylation data revealed five distinct subtypes of PFB tumors, termed PFB1-5, with distinct demographics, copy-number alterations, and gene expression profiles. All PFB subtypes were distinct from PFA and posterior fossa subependymomas. Of the five subtypes, PFB4 and PFB5 are more discrete, consisting of younger and older patients, respectively, with a strong female-gender enrichment in PFB5 (age: p = 0.011, gender: p = 0.04). Broad copy-number aberrations were common; however, many events such as chromosome 2 loss, 5 gain, and 17 loss were enriched in specific subtypes and 1q gain was enriched in PFB1. Late relapses were common across all five subtypes, but deaths were uncommon and present in only two subtypes (PFB1 and PFB3). Unlike the case in PFA ependymoma, 1q gain was not a robust marker of poor progression-free survival; however, chromosome 13q loss may represent a novel marker for risk stratification across the spectrum of PFB subtypes. Similar to PFA ependymoma, there exists a significant intertumoral heterogeneity within PFB, with distinct molecular subtypes identified. Even when accounting for this heterogeneity, extent of resection remains the strongest predictor of poor outcome. However, this biological heterogeneity must be accounted for in future preclinical modeling and personalized therapies.
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- 2018
11. 2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis
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Fisher, Michael J, Belzberg, Allan J, de Blank, Peter, De Raedt, Thomas, Elefteriou, Florent, Ferner, Rosalie E, Giovannini, Marco, Harris, Gordon J, Kalamarides, Michel, Karajannis, Matthias A, Kim, AeRang, Lázaro, Conxi, Le, Lu Q, Li, Wei, Listernick, Robert, Martin, Staci, Morrison, Helen, Pasmant, Eric, Ratner, Nancy, Schorry, Elisabeth, Ullrich, Nicole J, Viskochil, David, Weiss, Brian, Widemann, Brigitte C, Zhu, Yuan, Bakker, Annette, and Serra, Eduard
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Biomedical and Clinical Sciences ,Clinical Sciences ,Rare Diseases ,Cancer ,Neurosciences ,Biotechnology ,Pediatric ,Brain Cancer ,Neurofibromatosis ,Brain Disorders ,Animals ,Disease Management ,Disease Models ,Animal ,Genetic Association Studies ,Genetic Predisposition to Disease ,Humans ,Molecular Diagnostic Techniques ,Neurilemmoma ,Neurofibromatoses ,Neurofibromatosis 1 ,Neurofibromatosis 2 ,Skin Neoplasms ,Translational Research ,Biomedical ,autism ,conference ,ependymoma ,glioma ,malignant peripheral nerve sheath tumor ,meningioma ,merlin ,neurofibroma ,neurofibromatosis ,neurofibromin ,schwannoma ,schwannomatosis ,pseudoarthrosis ,Genetics ,Clinical sciences - Abstract
Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism. The transformation from plexiform neurofibroma (PNF) to malignant peripheral nerve sheath tumor (MPNST) is being clarified, along with new management and treatments for benign and premalignant tumors. Promising new cellular and in vivo models for understanding the musculoskeletal abnormalities in NF1, the development of NF2 or SWN associated schwannomas, and clarifying the cells that give rise to NF1-associated optic pathway glioma were presented. The interaction of neurofibromin and SPRED1 was described comprehensively, providing functional insight that will help in the interpretation of pathogenicity of certain missense variants identified in NF1 and Legius syndrome patients. Novel promising imaging techniques are being developed, as well as new integrative and holistic management models for patients that take into account psychological, social, and biological factors. Importantly, new therapeutic approaches for schwannomas, meningiomas, ependymomas, PNF, and MPNST are being pursued. This report highlights the major advances that were presented at the 2016 CTF NF conference.
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- 2018
12. YAP1-MAML2 fusion in a pediatric NF2-wildtype intraparenchymal brainstem schwannoma
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Karajannis, Matthias A., Li, Bryan K., Souweidane, Mark M., Liechty, Benjamin, Yao, JinJuan, Benhamida, Jamal K., Bale, Tejus A., and Rosenblum, Marc K.
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- 2022
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13. Clinical Characteristics and Treatment Approaches for H3K27-altered Diffuse Midline Glioma in Adolescents and Young Adults (P4-5.024)
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Lala, Nupur, primary, Karajannis, Matthias, additional, Graham, Maya, additional, and Pentsova, Elena, additional
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- 2024
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14. PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum
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Alhalabi, Karam T., Stichel, Damian, Sievers, Philipp, Peterziel, Heike, Sommerkamp, Alexander C., Sturm, Dominik, Wittmann, Andrea, Sill, Martin, Jäger, Natalie, Beck, Pengbo, Pajtler, Kristian W., Snuderl, Matija, Jour, George, Delorenzo, Michael, Martin, Allison M., Levy, Adam, Dalvi, Nagma, Hansford, Jordan R., Gottardo, Nicholas G., Uro-Coste, Emmanuelle, Maurage, Claude-Alain, Godfraind, Catherine, Vandenbos, Fanny, Pietsch, Torsten, Kramm, Christof, Filippidou, Maria, Kattamis, Antonis, Jones, Chris, Øra, Ingrid, Mikkelsen, Torben Stamm, Zapotocky, Michal, Sumerauer, David, Scheie, David, McCabe, Martin, Wesseling, Pieter, Tops, Bastiaan B. J., Kranendonk, Mariëtte E. G., Karajannis, Matthias A., Bouvier, Nancy, Papaemmanuil, Elli, Dohmen, Hildegard, Acker, Till, von Hoff, Katja, Schmid, Simone, Miele, Evelina, Filipski, Katharina, Kitanovski, Lidija, Krskova, Lenka, Gojo, Johannes, Haberler, Christine, Alvaro, Frank, Ecker, Jonas, Selt, Florian, Milde, Till, Witt, Olaf, Oehme, Ina, Kool, Marcel, von Deimling, Andreas, Korshunov, Andrey, Pfister, Stefan M., Sahm, Felix, and Jones, David T. W.
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- 2021
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15. Immunohistochemical analysis of H3K27me3 demonstrates global reduction in group-A childhood posterior fossa ependymoma and is a powerful predictor of outcome
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Panwalkar, Pooja, Clark, Jonathan, Ramaswamy, Vijay, Hawes, Debra, Yang, Fusheng, Dunham, Christopher, Yip, Stephen, Hukin, Juliette, Sun, Yilun, Schipper, Matthew J, Chavez, Lukas, Margol, Ashley, Pekmezci, Melike, Chung, Chan, Banda, Adam, Bayliss, Jill M, Curry, Sarah J, Santi, Mariarita, Rodriguez, Fausto J, Snuderl, Matija, Karajannis, Matthias A, Saratsis, Amanda M, Horbinski, Craig M, Carret, Anne-Sophie, Wilson, Beverly, Johnston, Donna, Lafay-Cousin, Lucie, Zelcer, Shayna, Eisenstat, David, Silva, Marianna, Scheinemann, Katrin, Jabado, Nada, McNeely, P Daniel, Kool, Marcel, Pfister, Stefan M, Taylor, Michael D, Hawkins, Cynthia, Korshunov, Andrey, Judkins, Alexander R, and Venneti, Sriram
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Biomedical and Clinical Sciences ,Clinical Sciences ,Brain Disorders ,Genetics ,Brain Cancer ,Rare Diseases ,Neurosciences ,Clinical Research ,Pediatric Cancer ,Cancer ,Clinical Trials and Supportive Activities ,Pediatric ,Child ,Child ,Preschool ,Disease-Free Survival ,Ependymoma ,Female ,Humans ,Infant ,Infratentorial Neoplasms ,Jumonji Domain-Containing Histone Demethylases ,Male ,Prognosis ,Registries ,Survival Rate ,Childhood ependymoma ,Epigenetics ,H3K27me3 ,Molecular subgrouping ,Neurology & Neurosurgery - Abstract
Posterior fossa ependymomas (EPN_PF) in children comprise two morphologically identical, but biologically distinct tumor entities. Group-A (EPN_PFA) tumors have a poor prognosis and require intensive therapy. In contrast, group-B tumors (EPN_PFB) exhibit excellent prognosis and the current consensus opinion recommends future clinical trials to test the possibility of treatment de-escalation in these patients. Therefore, distinguishing these two tumor subtypes is critical. EPN_PFA and EPN_PFB can be distinguished based on DNA methylation signatures, but these assays are not routinely available. We have previously shown that a subset of poorly prognostic childhood EPN_PF exhibits global reduction in H3K27me3. Therefore, we set out to determine whether a simple immunohistochemical assay for H3K27me3 could be used to segregate EPN_PFA from EPN_PFB tumors. We assembled a cohort of 230 childhood ependymomas and H3K27me3 immunohistochemistry was assessed as positive or negative in a blinded manner. H3K27me3 staining results were compared with DNA methylation-based subgroup information available in 112 samples [EPN_PFA (n = 72) and EPN_PFB tumors (n = 40)]. H3K27me3 staining was globally reduced in EPN_PFA tumors and immunohistochemistry showed 99% sensitivity and 100% specificity in segregating EPN_PFA from EPN_PFB tumors. Moreover, H3K27me3 immunostaining was sufficient to delineate patients with worse prognosis in two independent, non-overlapping cohorts (n = 133 and n = 97). In conclusion, immunohistochemical evaluation of H3K27me3 global reduction is an economic, easily available and readily adaptable method for defining high-risk EPN_PFA from low-risk posterior fossa EPN_PFB tumors to inform prognosis and to enable the design of future clinical trials.
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- 2017
16. The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis
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Blakeley, Jaishri O, Bakker, Annette, Barker, Anne, Clapp, Wade, Ferner, Rosalie, Fisher, Michael J, Giovannini, Marco, Gutmann, David H, Karajannis, Matthias A, Kissil, Joseph L, Legius, Eric, Lloyd, Alison C, Packer, Roger J, Ramesh, Vijaya, Riccardi, Vincent M, Stevenson, David A, Ullrich, Nicole J, Upadhyaya, Meena, and Stemmer‐Rachamimov, Anat
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Biomedical and Clinical Sciences ,Immunology ,Brain Disorders ,Neurofibromatosis ,Pediatric ,Rare Diseases ,Orphan Drug ,Cancer ,Pediatric Cancer ,Pediatric Research Initiative ,Neurosciences ,Brain Cancer ,Child ,Humans ,Neurilemmoma ,Neurofibromatoses ,Neurofibromatosis 1 ,Neurofibromatosis 2 ,Pediatrics ,Skin Neoplasms ,neurofibromatosis type 1 ,neurofibromatosis type 2 ,pediatric tumors ,rare disease ,schwannomatosis ,therapeutic discovery ,Genetics ,Clinical Sciences ,Clinical sciences - Abstract
The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features rare tumors such as glioma, meningioma, sarcoma, and neuroblastoma that occur both within these syndromes and spontaneously; associated with somatic mutations in NF1, NF2, and SWN. The meeting addresses both state of the field for current clinical care as well as emerging preclinical models fueling discovery of new therapeutic targets and discovery science initiatives investigating mechanisms of tumorigenesis. Importantly, this conference is a forum for presenting work in progress and bringing together all stakeholders in the scientific community. A highlight of the conference was the involvement of scientists from the pharmaceutical industry who presented growing efforts for rare disease therapeutic development in general and specifically, in pediatric patients with rare tumor syndromes. Another highlight was the focus on new investigators who presented new data about biomarker discovery, tumor pathogenesis, and diagnostic tools for NF1, NF2, and SWN. This report summarizes the themes of the meeting and a synthesis of the scientific discoveries presented at the conference in order to make the larger research community aware of progress in the neurofibromatoses.
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- 2017
17. Pediatric high-grade glioma: biologically and clinically in need of new thinking.
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Jones, Chris, Karajannis, Matthias A, Jones, David TW, Kieran, Mark W, Monje, Michelle, Baker, Suzanne J, Becher, Oren J, Cho, Yoon-Jae, Gupta, Nalin, Hawkins, Cynthia, Hargrave, Darren, Haas-Kogan, Daphne A, Jabado, Nada, Li, Xiao-Nan, Mueller, Sabine, Nicolaides, Theo, Packer, Roger J, Persson, Anders I, Phillips, Joanna J, Simonds, Erin F, Stafford, James M, Tang, Yujie, Pfister, Stefan M, and Weiss, William A
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Humans ,Glioma ,Brain Neoplasms ,Cell Transformation ,Neoplastic ,Prognosis ,Child ,Neoplasm Grading ,DIPG ,clinical trials ,genomics ,glioma ,pediatric ,Clinical Trials and Supportive Activities ,Rare Diseases ,Brain Cancer ,Neurosciences ,Brain Disorders ,Pediatric ,Cancer ,Clinical Research ,Orphan Drug ,Oncology & Carcinogenesis ,Oncology and Carcinogenesis - Abstract
High-grade gliomas in children are different from those that arise in adults. Recent collaborative molecular analyses of these rare cancers have revealed previously unappreciated connections among chromatin regulation, developmental signaling, and tumorigenesis. As we begin to unravel the unique developmental origins and distinct biological drivers of this heterogeneous group of tumors, clinical trials need to keep pace. It is important to avoid therapeutic strategies developed purely using data obtained from studies on adult glioblastoma. This approach has resulted in repetitive trials and ineffective treatments being applied to these children, with limited improvement in clinical outcome. The authors of this perspective, comprising biology and clinical expertise in the disease, recently convened to discuss the most effective ways to translate the emerging molecular insights into patient benefit. This article reviews our current understanding of pediatric high-grade glioma and suggests approaches for innovative clinical management.
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- 2017
18. Clinical and molecular heterogeneity of pineal parenchymal tumors: a consensus study
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Liu, Anthony P. Y., Li, Bryan K., Pfaff, Elke, Gudenas, Brian, Vasiljevic, Alexandre, Orr, Brent A., Dufour, Christelle, Snuderl, Matija, Karajannis, Matthias A., Rosenblum, Marc K., Hwang, Eugene I., Ng, Ho-Keung, Hansford, Jordan R., Szathmari, Alexandru, Faure-Conter, Cécile, Merchant, Thomas E., Levine, Max, Bouvier, Nancy, von Hoff, Katja, Mynarek, Martin, Rutkowski, Stefan, Sahm, Felix, Kool, Marcel, Hawkins, Cynthia, Onar-Thomas, Arzu, Robinson, Giles W., Gajjar, Amar, Pfister, Stefan M., Bouffet, Eric, Northcott, Paul A., Jones, David T. W., and Huang, Annie
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- 2021
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19. Hypofractionated re‐irradiation for diffuse intrinsic pontine glioma
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Mankuzhy, Nikhil P., primary, Tringale, Kathryn R., additional, Dunkel, Ira J., additional, Farouk Sait, Sameer, additional, Souweidane, Mark M., additional, Khakoo, Yasmin, additional, Karajannis, Matthias A., additional, and Wolden, Suzanne, additional
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- 2024
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20. Therapeutic Impact of Cytoreductive Surgery and Irradiation of Posterior Fossa Ependymoma in the Molecular Era: A Retrospective Multicohort Analysis.
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Ramaswamy, Vijay, Hielscher, Thomas, Mack, Stephen C, Lassaletta, Alvaro, Lin, Tong, Pajtler, Kristian W, Jones, David TW, Luu, Betty, Cavalli, Florence MG, Aldape, Kenneth, Remke, Marc, Mynarek, Martin, Rutkowski, Stefan, Gururangan, Sridharan, McLendon, Roger E, Lipp, Eric S, Dunham, Christopher, Hukin, Juliette, Eisenstat, David D, Fulton, Dorcas, van Landeghem, Frank KH, Santi, Mariarita, van Veelen, Marie-Lise C, Van Meir, Erwin G, Osuka, Satoru, Fan, Xing, Muraszko, Karin M, Tirapelli, Daniela PC, Oba-Shinjo, Sueli M, Marie, Suely KN, Carlotti, Carlos G, Lee, Ji Yeoun, Rao, Amulya A Nageswara, Giannini, Caterina, Faria, Claudia C, Nunes, Sofia, Mora, Jaume, Hamilton, Ronald L, Hauser, Peter, Jabado, Nada, Petrecca, Kevin, Jung, Shin, Massimi, Luca, Zollo, Massimo, Cinalli, Giuseppe, Bognár, László, Klekner, Almos, Hortobágyi, Tibor, Leary, Sarah, Ermoian, Ralph P, Olson, James M, Leonard, Jeffrey R, Gardner, Corrine, Grajkowska, Wieslawa A, Chambless, Lola B, Cain, Jason, Eberhart, Charles G, Ahsan, Sama, Massimino, Maura, Giangaspero, Felice, Buttarelli, Francesca R, Packer, Roger J, Emery, Lyndsey, Yong, William H, Soto, Horacio, Liau, Linda M, Everson, Richard, Grossbach, Andrew, Shalaby, Tarek, Grotzer, Michael, Karajannis, Matthias A, Zagzag, David, Wheeler, Helen, von Hoff, Katja, Alonso, Marta M, Tuñon, Teresa, Schüller, Ulrich, Zitterbart, Karel, Sterba, Jaroslav, Chan, Jennifer A, Guzman, Miguel, Elbabaa, Samer K, Colman, Howard, Dhall, Girish, Fisher, Paul G, Fouladi, Maryam, Gajjar, Amar, Goldman, Stewart, Hwang, Eugene, Kool, Marcel, Ladha, Harshad, Vera-Bolanos, Elizabeth, Wani, Khalida, Lieberman, Frank, Mikkelsen, Tom, Omuro, Antonio M, Pollack, Ian F, Prados, Michael, Robins, H Ian, and Soffietti, Riccardo
- Subjects
Humans ,Ependymoma ,Infratentorial Neoplasms ,Combined Modality Therapy ,Retrospective Studies ,Cohort Studies ,Adolescent ,Adult ,Child ,Child ,Preschool ,Infant ,Female ,Male ,Cytoreduction Surgical Procedures ,Rare Diseases ,Pediatric Cancer ,Cancer ,Pediatric ,Patient Safety ,Clinical Sciences ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
PurposePosterior fossa ependymoma comprises two distinct molecular variants termed EPN_PFA and EPN_PFB that have a distinct biology and natural history. The therapeutic value of cytoreductive surgery and radiation therapy for posterior fossa ependymoma after accounting for molecular subgroup is not known.MethodsFour independent nonoverlapping retrospective cohorts of posterior fossa ependymomas (n = 820) were profiled using genome-wide methylation arrays. Risk stratification models were designed based on known clinical and newly described molecular biomarkers identified by multivariable Cox proportional hazards analyses.ResultsMolecular subgroup is a powerful independent predictor of outcome even when accounting for age or treatment regimen. Incompletely resected EPN_PFA ependymomas have a dismal prognosis, with a 5-year progression-free survival ranging from 26.1% to 56.8% across all four cohorts. Although first-line (adjuvant) radiation is clearly beneficial for completely resected EPN_PFA, a substantial proportion of patients with EPN_PFB can be cured with surgery alone, and patients with relapsed EPN_PFB can often be treated successfully with delayed external-beam irradiation.ConclusionThe most impactful biomarker for posterior fossa ependymoma is molecular subgroup affiliation, independent of other demographic or treatment variables. However, both EPN_PFA and EPN_PFB still benefit from increased extent of resection, with the survival rates being particularly poor for subtotally resected EPN_PFA, even with adjuvant radiation therapy. Patients with EPN_PFB who undergo gross total resection are at lower risk for relapse and should be considered for inclusion in a randomized clinical trial of observation alone with radiation reserved for those who experience recurrence.
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- 2016
21. A phase I trial of lenalidomide and radiotherapy in children with diffuse intrinsic pontine gliomas or high-grade gliomas
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Hipp, Sean J., Goldman, Stewart, Kaushal, Aradhana, Krauze, Andra, Citrin, Deborah, Glod, John, Walker, Kim, Shih, Joanna H., Sethumadhavan, Hema, O’Neill, Keith, Garvin, James H., Glade-Bender, Julia, Karajannis, Matthias A., Atlas, Mark P., Odabas, Arman, Rodgers, Louis T., Peer, Cody J., Savage, Jason, Camphausen, Kevin A., Packer, Roger J., Figg, W. Douglas, and Warren, Katherine E.
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- 2020
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22. Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations
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Pfaff, Elke, Aichmüller, Christian, Sill, Martin, Stichel, Damian, Snuderl, Matija, Karajannis, Matthias A., Schuhmann, Martin U., Schittenhelm, Jens, Hasselblatt, Martin, Thomas, Christian, Korshunov, Andrey, Rhizova, Marina, Wittmann, Andrea, Kaufhold, Anna, Iskar, Murat, Ketteler, Petra, Lohmann, Dietmar, Orr, Brent A., Ellison, David W., von Hoff, Katja, Mynarek, Martin, Rutkowski, Stefan, Sahm, Felix, von Deimling, Andreas, Lichter, Peter, Kool, Marcel, Zapatka, Marc, Pfister, Stefan M., and Jones, David T. W.
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- 2020
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23. Subgroup-specific outcomes of children with malignant childhood brain tumors treated with an irradiation-sparing protocol
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Hidalgo, Eveline Teresa, Snuderl, Matija, Orillac, Cordelia, Kvint, Svetlana, Serrano, Jonathan, Wu, Peter, Karajannis, Matthias A., and Gardner, Sharon L.
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- 2020
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24. Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups
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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
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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.
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- 2015
25. High-Grade Glioma, Including Diffuse Intrinsic Pontine Glioma
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Karajannis, Matthias A., Snuderl, Matija, Yeh, Brian K., Walsh, Michael F., Jain, Rajan, Sahasrabudhe, Nikhil A., Wisoff, Jeffrey H., Gajjar, Amar, editor, Reaman, Gregory H., editor, Racadio, Judy M., editor, and Smith, Franklin O., editor
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- 2018
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26. Malignant transformation of a polymorphous low grade neuroepithelial tumor of the young (PLNTY)
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Bale, Tejus A., Sait, Sameer F., Benhamida, Jamal, Ptashkin, Ryan, Haque, Sofia, Villafania, Liliana, Sill, Martin, Sadowska, Justyna, Akhtar, Razia B., Liechty, Benjamin, Juthani, Rupa, Ladanyi, Marc, Fowkes, Mary, Karajannis, Matthias A., and Rosenblum, Marc K.
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- 2021
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27. Table S3 from Cotargeting Phosphoinositide 3-Kinase and Focal Adhesion Kinase Pathways Inhibits Proliferation of NF2 Schwannoma Cells
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Hardin, Haley M., primary, Dinh, Christine T., primary, Huegel, Julianne, primary, Petrilli, Alejandra M., primary, Bracho, Olena, primary, Allaf, Abdulrahman M., primary, Karajannis, Matthias A., primary, Griswold, Anthony J., primary, Ivan, Michael E., primary, Morcos, Jacques, primary, Gultekin, Sakir H., primary, Telischi, Fred F., primary, Liu, Xue Zhong, primary, and Fernandez-Valle, Cristina, primary
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- 2023
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28. Figure S2 from Cotargeting Phosphoinositide 3-Kinase and Focal Adhesion Kinase Pathways Inhibits Proliferation of NF2 Schwannoma Cells
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Hardin, Haley M., primary, Dinh, Christine T., primary, Huegel, Julianne, primary, Petrilli, Alejandra M., primary, Bracho, Olena, primary, Allaf, Abdulrahman M., primary, Karajannis, Matthias A., primary, Griswold, Anthony J., primary, Ivan, Michael E., primary, Morcos, Jacques, primary, Gultekin, Sakir H., primary, Telischi, Fred F., primary, Liu, Xue Zhong, primary, and Fernandez-Valle, Cristina, primary
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- 2023
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29. Western Blot Raw Images and Quantification from Cotargeting Phosphoinositide 3-Kinase and Focal Adhesion Kinase Pathways Inhibits Proliferation of NF2 Schwannoma Cells
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Hardin, Haley M., primary, Dinh, Christine T., primary, Huegel, Julianne, primary, Petrilli, Alejandra M., primary, Bracho, Olena, primary, Allaf, Abdulrahman M., primary, Karajannis, Matthias A., primary, Griswold, Anthony J., primary, Ivan, Michael E., primary, Morcos, Jacques, primary, Gultekin, Sakir H., primary, Telischi, Fred F., primary, Liu, Xue Zhong, primary, and Fernandez-Valle, Cristina, primary
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- 2023
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30. Data from Cotargeting Phosphoinositide 3-Kinase and Focal Adhesion Kinase Pathways Inhibits Proliferation of NF2 Schwannoma Cells
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Hardin, Haley M., primary, Dinh, Christine T., primary, Huegel, Julianne, primary, Petrilli, Alejandra M., primary, Bracho, Olena, primary, Allaf, Abdulrahman M., primary, Karajannis, Matthias A., primary, Griswold, Anthony J., primary, Ivan, Michael E., primary, Morcos, Jacques, primary, Gultekin, Sakir H., primary, Telischi, Fred F., primary, Liu, Xue Zhong, primary, and Fernandez-Valle, Cristina, primary
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- 2023
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31. Supplementary Data Legends from Cotargeting Phosphoinositide 3-Kinase and Focal Adhesion Kinase Pathways Inhibits Proliferation of NF2 Schwannoma Cells
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Hardin, Haley M., primary, Dinh, Christine T., primary, Huegel, Julianne, primary, Petrilli, Alejandra M., primary, Bracho, Olena, primary, Allaf, Abdulrahman M., primary, Karajannis, Matthias A., primary, Griswold, Anthony J., primary, Ivan, Michael E., primary, Morcos, Jacques, primary, Gultekin, Sakir H., primary, Telischi, Fred F., primary, Liu, Xue Zhong, primary, and Fernandez-Valle, Cristina, primary
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- 2023
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32. High-grade Glioma
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Macarthur, Donald C., primary, Kramm, Christof M., additional, and Karajannis, Matthias A., additional
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- 2020
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33. Hereditary Predisposition to Primary CNS Tumors
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Tabori, Uri, Karajannis, Matthias A., Pappas, John G., Cagle, Philip T., Series editor, Karajannis, Matthias A., editor, and Zagzag, David, editor
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- 2015
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34. Schwannomas
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Karajannis, Matthias A., Stemmer-Rachamimov, Anat, Cagle, Philip T., Series editor, Karajannis, Matthias A., editor, and Zagzag, David, editor
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- 2015
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35. The molecular landscape of ETMR at diagnosis and relapse
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Lambo, Sander, Gröbner, Susanne N., Rausch, Tobias, Waszak, Sebastian M., Schmidt, Christin, Gorthi, Aparna, Romero, July Carolina, Mauermann, Monika, Brabetz, Sebastian, Krausert, Sonja, Buchhalter, Ivo, Koster, Jan, Zwijnenburg, Danny A., Sill, Martin, Hübner, Jens-Martin, Mack, Norman, Schwalm, Benjamin, Ryzhova, Marina, Hovestadt, Volker, Papillon-Cavanagh, Simon, Chan, Jennifer A., Landgraf, Pablo, Ho, Ben, Milde, Till, Witt, Olaf, Ecker, Jonas, Sahm, Felix, Sumerauer, David, Ellison, David W., Orr, Brent A., Darabi, Anna, Haberler, Christine, Figarella-Branger, Dominique, Wesseling, Pieter, Schittenhelm, Jens, Remke, Marc, Taylor, Michael D., Gil-da-Costa, Maria J., Łastowska, Maria, Grajkowska, Wiesława, Hasselblatt, Martin, Hauser, Peter, Pietsch, Torsten, Uro-Coste, Emmanuelle, Bourdeaut, Franck, Masliah-Planchon, Julien, Rigau, Valérie, Alexandrescu, Sanda, Wolf, Stephan, Li, Xiao-Nan, Schüller, Ulrich, Snuderl, Matija, Karajannis, Matthias A., Giangaspero, Felice, Jabado, Nada, von Deimling, Andreas, Jones, David T. W., Korbel, Jan O., von Hoff, Katja, Lichter, Peter, Huang, Annie, Bishop, Alexander J. R., Pfister, Stefan M., Korshunov, Andrey, and Kool, Marcel
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- 2019
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36. Debio1347, an Oral FGFR Inhibitor: Results From a Single-Center Study in Pediatric Patients With Recurrent or Refractory FGFR-Altered Gliomas
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Farouk Sait, Sameer, Gilheeney, Stephen W., Bale, Tejus A., Haque, Sofia, Dinkin, Marc J., Vitolano, Stephanie, Rosenblum, Marc K., Ibanez, Katarzyna, Prince, Daniel E., Spatz, Krisoula H., Dunkel, Ira J., and Karajannis, Matthias A.
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- 2021
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37. Cotargeting Phosphoinositide 3-Kinase and Focal Adhesion Kinase Pathways Inhibits Proliferation of NF2 Schwannoma Cells
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Hardin, Haley M., primary, Dinh, Christine T., additional, Huegel, Julianne, additional, Petrilli, Alejandra M., additional, Bracho, Olena, additional, Allaf, Abdulrahman M., additional, Karajannis, Matthias A., additional, Griswold, Anthony J., additional, Ivan, Michael E., additional, Morcos, Jacques, additional, Gultekin, Sakir H., additional, Telischi, Fred F., additional, Liu, Xue Zhong, additional, and Fernandez-Valle, Cristina, additional
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- 2023
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38. Recurrent TRAK1::RAF1 Fusions in pediatric low‐grade gliomas
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Benhamida, Jamal K., primary, Harmsen, Hannah J., additional, Ma, Deqin, additional, William, Christopher M., additional, Li, Bryan K., additional, Villafania, Liliana, additional, Sukhadia, Purvil, additional, Mullaney, Kerry A., additional, Dewan, Michael C., additional, Vakiani, Efsevia, additional, Karajannis, Matthias A., additional, Snuderl, Matija, additional, Zagzag, David, additional, Ladanyi, Marc, additional, Rosenblum, Marc K., additional, and Bale, Tejus A., additional
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- 2023
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39. Effect of lapatinib on meningioma growth in adults with neurofibromatosis type 2
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Osorio, Diana S., Hu, Jessica, Mitchell, Carole, Allen, Jeffrey C., Stanek, Joseph, Hagiwara, Mari, and Karajannis, Matthias A.
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- 2018
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40. Patterns of relapse for children with localized intracranial ependymoma
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De, Brian, Khakoo, Yasmin, Souweidane, Mark M., Dunkel, Ira J., Patel, Suchit H., Gilheeney, Stephen W., De Braganca, Kevin C., Karajannis, Matthias A., and Wolden, Suzanne L.
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- 2018
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41. Programmed death ligand 1 expression and tumor infiltrating lymphocytes in neurofibromatosis type 1 and 2 associated tumors
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Wang, Shiyang, Liechty, Benjamin, Patel, Seema, Weber, Jeffrey S., Hollmann, Travis J., Snuderl, Matija, and Karajannis, Matthias A.
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- 2018
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42. DNA methylation-based classification of central nervous system tumours
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Capper, David, Jones, David T. W., 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, Jones, Chris, Jacques, Thomas S., Radlwimmer, Bernhard, Gessi, Marco, Pietsch, Torsten, Schramm, Johannes, Schackert, Gabriele, Westphal, Manfred, Reifenberger, Guido, Wesseling, Pieter, Weller, Michael, Collins, Vincent Peter, Blümcke, Ingmar, Bendszus, Martin, Debus, Jürgen, Huang, Annie, Jabado, Nada, Northcott, Paul A., Paulus, Werner, Gajjar, Amar, Robinson, Giles W., Taylor, Michael D., Jaunmuktane, Zane, Ryzhova, Marina, Platten, Michael, Unterberg, Andreas, Wick, Wolfgang, Karajannis, Matthias A., Mittelbronn, Michel, Acker, Till, Hartmann, Christian, Aldape, Kenneth, Schüller, Ulrich, Buslei, Rolf, Lichter, Peter, Kool, Marcel, Herold-Mende, Christel, Ellison, David W., Hasselblatt, Martin, Snuderl, Matija, Brandner, Sebastian, Korshunov, Andrey, von Deimling, Andreas, and Pfister, Stefan M.
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- 2018
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43. Clinical outcome of pediatric medulloblastoma patients with Li–Fraumeni syndrome
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Kolodziejczak, Anna S, primary, Guerrini-Rousseau, Lea, additional, Planchon, Julien Masliah, additional, Ecker, Jonas, additional, Selt, Florian, additional, Mynarek, Martin, additional, Obrecht, Denise, additional, Sill, Martin, additional, Autry, Robert J, additional, Stutheit-Zhao, Eric, additional, Hirsch, Steffen, additional, Amouyal, Elsa, additional, Dufour, Christelle, additional, Ayrault, Olivier, additional, Torrejon, Jacob, additional, Waszak, Sebastian M, additional, Ramaswamy, Vijay, additional, Pentikainen, Virve, additional, Demir, Haci Ahmet, additional, Clifford, Steven C, additional, Schwalbe, Ed C, additional, Massimi, Luca, additional, Snuderl, Matija, additional, Galbraith, Kristyn, additional, Karajannis, Matthias A, additional, Hill, Katherine, additional, Li, Bryan K, additional, Walsh, Mike, additional, White, Christine L, additional, Redmond, Shelagh, additional, Loizos, Loizou, additional, Jakob, Marcus, additional, Kordes, Uwe R, additional, Schmid, Irene, additional, Hauer, Julia, additional, Blattmann, Claudia, additional, Filippidou, Maria, additional, Piccolo, Gianluca, additional, Scheurlen, Wolfram, additional, Farrag, Ahmed, additional, Grund, Kerstin, additional, Sutter, Christian, additional, Pietsch, Torsten, additional, Frank, Stephan, additional, Schewe, Denis M, additional, Malkin, David, additional, Ben-Arush, Myriam, additional, Sehested, Astrid, additional, Wong, Tai-Tong, additional, Wu, Kuo-Sheng, additional, Liu, Yen-Lin, additional, Carceller, Fernando, additional, Mueller, Sabine, additional, Stoller, Schuyler, additional, Taylor, Michael D, additional, Tabori, Uri, additional, Bouffet, Eric, additional, Kool, Marcel, additional, Sahm, Felix, additional, von Deimling, Andreas, additional, Korshunov, Andrey, additional, von Hoff, Katja, additional, Kratz, Christian P, additional, Sturm, Dominik, additional, Jones, David T W, additional, Rutkowski, Stefan, additional, van Tilburg, Cornelis M, additional, Witt, Olaf, additional, Bougeard, Gaëlle, additional, Pajtler, Kristian W, additional, Pfister, Stefan M, additional, Bourdeaut, Franck, additional, and Milde, Till, additional
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- 2023
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44. Leptomeningeal disease in histone-mutant gliomas
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Diaz, Maria, primary, Rana, Satshil, additional, Silva Correia, Carlos Eduardo, additional, Reiner, Anne S, additional, Lin, Andrew, additional, Miller, Alexandra, additional, Graham, Maya, additional, Chudsky, Sofia, additional, Bale, Tejus, additional, Rosenblum, Marc, additional, Karajannis, Matthias A, additional, and Pentsova, Elena, additional
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- 2023
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45. Slipped capital femoral epiphyses: A major on‐target adverse event associated with FGFR tyrosine kinase inhibitors in pediatric patients
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Farouk Sait, Sameer, primary, Fischer, Cheryl, additional, Antal, Zoltan, additional, Spatz, Krisoula, additional, Prince, Daniel E., additional, Ibanez, Katarzyna, additional, Behr, Gerald G., additional, Dunkel, Ira J., additional, and Karajannis, Matthias A., additional
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- 2023
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46. Cerebrospinal fluid: the new frontier for methylome-based diagnostic classification of brain tumors
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Miller, Alexandra M, primary and Karajannis, Matthias A, additional
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- 2023
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47. Data from Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes
- Author
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Clarke, Matthew, primary, Mackay, Alan, primary, Ismer, Britta, primary, Pickles, Jessica C., primary, Tatevossian, Ruth G., primary, Newman, Scott, primary, Bale, Tejus A., primary, Stoler, Iris, primary, Izquierdo, Elisa, primary, Temelso, Sara, primary, Carvalho, Diana M., primary, Molinari, Valeria, primary, Burford, Anna, primary, Howell, Louise, primary, Virasami, Alex, primary, Fairchild, Amy R., primary, Avery, Aimee, primary, Chalker, Jane, primary, Kristiansen, Mark, primary, Haupfear, Kelly, primary, Dalton, James D., primary, Orisme, Wilda, primary, Wen, Ji, primary, Hubank, Michael, primary, Kurian, Kathreena M., primary, Rowe, Catherine, primary, Maybury, Mellissa, primary, Crosier, Stephen, primary, Knipstein, Jeffrey, primary, Schüller, Ulrich, primary, Kordes, Uwe, primary, Kram, David E., primary, Snuderl, Matija, primary, Bridges, Leslie, primary, Martin, Andrew J., primary, Doey, Lawrence J., primary, Al-Sarraj, Safa, primary, Chandler, Christopher, primary, Zebian, Bassel, primary, Cairns, Claire, primary, Natrajan, Rachael, primary, Boult, Jessica K.R., primary, Robinson, Simon P., primary, Sill, Martin, primary, Dunkel, Ira J., primary, Gilheeney, Stephen W., primary, Rosenblum, Marc K., primary, Hughes, Debbie, primary, Proszek, Paula Z., primary, Macdonald, Tobey J., primary, Preusser, Matthias, primary, Haberler, Christine, primary, Slavc, Irene, primary, Packer, Roger, primary, Ng, Ho-Keung, primary, Caspi, Shani, primary, Popović, Mara, primary, Faganel Kotnik, Barbara, primary, Wood, Matthew D., primary, Baird, Lissa, primary, Davare, Monika Ashok, primary, Solomon, David A., primary, Olsen, Thale Kristin, primary, Brandal, Petter, primary, Farrell, Michael, primary, Cryan, Jane B., primary, Capra, Michael, primary, Karremann, Michael, primary, Schittenhelm, Jens, primary, Schuhmann, Martin U., primary, Ebinger, Martin, primary, Dinjens, Winand N.M., primary, Kerl, Kornelius, primary, Hettmer, Simone, primary, Pietsch, Torsten, primary, Andreiuolo, Felipe, primary, Driever, Pablo Hernáiz, primary, Korshunov, Andrey, primary, Hiddingh, Lotte, primary, Worst, Barbara C., primary, Sturm, Dominik, primary, Zuckermann, Marc, primary, Witt, Olaf, primary, Bloom, Tabitha, primary, Mitchell, Clare, primary, Miele, Evelina, primary, Colafati, Giovanna Stefania, primary, Diomedi-Camassei, Francesca, primary, Bailey, Simon, primary, Moore, Andrew S., primary, Hassall, Timothy E.G., primary, Lowis, Stephen P., primary, Tsoli, Maria, primary, Cowley, Mark J., primary, Ziegler, David S., primary, Karajannis, Matthias A., primary, Aquilina, Kristian, primary, Hargrave, Darren R., primary, Carceller, Fernando, primary, Marshall, Lynley V., primary, von Deimling, Andreas, primary, Kramm, Christof M., primary, Pfister, Stefan M., primary, Sahm, Felix, primary, Baker, Suzanne J., primary, Mastronuzzi, Angela, primary, Carai, Andrea, primary, Vinci, Maria, primary, Capper, David, primary, Popov, Sergey, primary, Ellison, David W., primary, Jacques, Thomas S., primary, Jones, David T.W., primary, and Jones, Chris, primary
- Published
- 2023
- Full Text
- View/download PDF
48. Supplementary Data from Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes
- Author
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Clarke, Matthew, primary, Mackay, Alan, primary, Ismer, Britta, primary, Pickles, Jessica C., primary, Tatevossian, Ruth G., primary, Newman, Scott, primary, Bale, Tejus A., primary, Stoler, Iris, primary, Izquierdo, Elisa, primary, Temelso, Sara, primary, Carvalho, Diana M., primary, Molinari, Valeria, primary, Burford, Anna, primary, Howell, Louise, primary, Virasami, Alex, primary, Fairchild, Amy R., primary, Avery, Aimee, primary, Chalker, Jane, primary, Kristiansen, Mark, primary, Haupfear, Kelly, primary, Dalton, James D., primary, Orisme, Wilda, primary, Wen, Ji, primary, Hubank, Michael, primary, Kurian, Kathreena M., primary, Rowe, Catherine, primary, Maybury, Mellissa, primary, Crosier, Stephen, primary, Knipstein, Jeffrey, primary, Schüller, Ulrich, primary, Kordes, Uwe, primary, Kram, David E., primary, Snuderl, Matija, primary, Bridges, Leslie, primary, Martin, Andrew J., primary, Doey, Lawrence J., primary, Al-Sarraj, Safa, primary, Chandler, Christopher, primary, Zebian, Bassel, primary, Cairns, Claire, primary, Natrajan, Rachael, primary, Boult, Jessica K.R., primary, Robinson, Simon P., primary, Sill, Martin, primary, Dunkel, Ira J., primary, Gilheeney, Stephen W., primary, Rosenblum, Marc K., primary, Hughes, Debbie, primary, Proszek, Paula Z., primary, Macdonald, Tobey J., primary, Preusser, Matthias, primary, Haberler, Christine, primary, Slavc, Irene, primary, Packer, Roger, primary, Ng, Ho-Keung, primary, Caspi, Shani, primary, Popović, Mara, primary, Faganel Kotnik, Barbara, primary, Wood, Matthew D., primary, Baird, Lissa, primary, Davare, Monika Ashok, primary, Solomon, David A., primary, Olsen, Thale Kristin, primary, Brandal, Petter, primary, Farrell, Michael, primary, Cryan, Jane B., primary, Capra, Michael, primary, Karremann, Michael, primary, Schittenhelm, Jens, primary, Schuhmann, Martin U., primary, Ebinger, Martin, primary, Dinjens, Winand N.M., primary, Kerl, Kornelius, primary, Hettmer, Simone, primary, Pietsch, Torsten, primary, Andreiuolo, Felipe, primary, Driever, Pablo Hernáiz, primary, Korshunov, Andrey, primary, Hiddingh, Lotte, primary, Worst, Barbara C., primary, Sturm, Dominik, primary, Zuckermann, Marc, primary, Witt, Olaf, primary, Bloom, Tabitha, primary, Mitchell, Clare, primary, Miele, Evelina, primary, Colafati, Giovanna Stefania, primary, Diomedi-Camassei, Francesca, primary, Bailey, Simon, primary, Moore, Andrew S., primary, Hassall, Timothy E.G., primary, Lowis, Stephen P., primary, Tsoli, Maria, primary, Cowley, Mark J., primary, Ziegler, David S., primary, Karajannis, Matthias A., primary, Aquilina, Kristian, primary, Hargrave, Darren R., primary, Carceller, Fernando, primary, Marshall, Lynley V., primary, von Deimling, Andreas, primary, Kramm, Christof M., primary, Pfister, Stefan M., primary, Sahm, Felix, primary, Baker, Suzanne J., primary, Mastronuzzi, Angela, primary, Carai, Andrea, primary, Vinci, Maria, primary, Capper, David, primary, Popov, Sergey, primary, Ellison, David W., primary, Jacques, Thomas S., primary, Jones, David T.W., primary, and Jones, Chris, primary
- Published
- 2023
- Full Text
- View/download PDF
49. Supplementary Table S3 from Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes
- Author
-
Clarke, Matthew, primary, Mackay, Alan, primary, Ismer, Britta, primary, Pickles, Jessica C., primary, Tatevossian, Ruth G., primary, Newman, Scott, primary, Bale, Tejus A., primary, Stoler, Iris, primary, Izquierdo, Elisa, primary, Temelso, Sara, primary, Carvalho, Diana M., primary, Molinari, Valeria, primary, Burford, Anna, primary, Howell, Louise, primary, Virasami, Alex, primary, Fairchild, Amy R., primary, Avery, Aimee, primary, Chalker, Jane, primary, Kristiansen, Mark, primary, Haupfear, Kelly, primary, Dalton, James D., primary, Orisme, Wilda, primary, Wen, Ji, primary, Hubank, Michael, primary, Kurian, Kathreena M., primary, Rowe, Catherine, primary, Maybury, Mellissa, primary, Crosier, Stephen, primary, Knipstein, Jeffrey, primary, Schüller, Ulrich, primary, Kordes, Uwe, primary, Kram, David E., primary, Snuderl, Matija, primary, Bridges, Leslie, primary, Martin, Andrew J., primary, Doey, Lawrence J., primary, Al-Sarraj, Safa, primary, Chandler, Christopher, primary, Zebian, Bassel, primary, Cairns, Claire, primary, Natrajan, Rachael, primary, Boult, Jessica K.R., primary, Robinson, Simon P., primary, Sill, Martin, primary, Dunkel, Ira J., primary, Gilheeney, Stephen W., primary, Rosenblum, Marc K., primary, Hughes, Debbie, primary, Proszek, Paula Z., primary, Macdonald, Tobey J., primary, Preusser, Matthias, primary, Haberler, Christine, primary, Slavc, Irene, primary, Packer, Roger, primary, Ng, Ho-Keung, primary, Caspi, Shani, primary, Popović, Mara, primary, Faganel Kotnik, Barbara, primary, Wood, Matthew D., primary, Baird, Lissa, primary, Davare, Monika Ashok, primary, Solomon, David A., primary, Olsen, Thale Kristin, primary, Brandal, Petter, primary, Farrell, Michael, primary, Cryan, Jane B., primary, Capra, Michael, primary, Karremann, Michael, primary, Schittenhelm, Jens, primary, Schuhmann, Martin U., primary, Ebinger, Martin, primary, Dinjens, Winand N.M., primary, Kerl, Kornelius, primary, Hettmer, Simone, primary, Pietsch, Torsten, primary, Andreiuolo, Felipe, primary, Driever, Pablo Hernáiz, primary, Korshunov, Andrey, primary, Hiddingh, Lotte, primary, Worst, Barbara C., primary, Sturm, Dominik, primary, Zuckermann, Marc, primary, Witt, Olaf, primary, Bloom, Tabitha, primary, Mitchell, Clare, primary, Miele, Evelina, primary, Colafati, Giovanna Stefania, primary, Diomedi-Camassei, Francesca, primary, Bailey, Simon, primary, Moore, Andrew S., primary, Hassall, Timothy E.G., primary, Lowis, Stephen P., primary, Tsoli, Maria, primary, Cowley, Mark J., primary, Ziegler, David S., primary, Karajannis, Matthias A., primary, Aquilina, Kristian, primary, Hargrave, Darren R., primary, Carceller, Fernando, primary, Marshall, Lynley V., primary, von Deimling, Andreas, primary, Kramm, Christof M., primary, Pfister, Stefan M., primary, Sahm, Felix, primary, Baker, Suzanne J., primary, Mastronuzzi, Angela, primary, Carai, Andrea, primary, Vinci, Maria, primary, Capper, David, primary, Popov, Sergey, primary, Ellison, David W., primary, Jacques, Thomas S., primary, Jones, David T.W., primary, and Jones, Chris, primary
- Published
- 2023
- Full Text
- View/download PDF
50. Supplementary Text from Combined Inhibition of NEDD8-Activating Enzyme and mTOR Suppresses NF2 Loss–Driven Tumorigenesis
- Author
-
Cooper, Jonathan, primary, Xu, Qingwen, primary, Zhou, Lu, primary, Pavlovic, Milica, primary, Ojeda, Virginia, primary, Moulick, Kamalika, primary, de Stanchina, Elisa, primary, Poirier, John T., primary, Zauderer, Marjorie, primary, Rudin, Charles M., primary, Karajannis, Matthias A., primary, Hanemann, C. Oliver, primary, and Giancotti, Filippo G., primary
- Published
- 2023
- Full Text
- View/download PDF
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