Johannes Gojo

Nanopore-based liquid biopsy analysis enables preoperative tumor classification in pediatric brain tumors

Natalia Stępień, Dagmar Al Tukmachi, Maciej Balura, Petra Pokorná et autres

Liquid biopsy utilizing circulating tumor DNA (ctDNA) derived from cerebrospinal fluid (CSF) has rapidly evolved towards clinical application in pediatric brain tumors. However, limited information on technical applicability and clinical translation impedes transformation into clinical routine. Herein, we assessed the feasibility and …

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The ITCC-P4 PDX Platform Enables Preclinical Testing of Pediatric Cancers

Aniello Federico, Apurva Gopisetty, Didier Surdez, Yasmine Iddir et autres

Abstract Cancer is the leading cause of disease-related deaths among children in high-income countries. Tumor heterogeneity and the lack of mechanism of action–based therapeutic options are key challenges to overcome to improve the survival of pediatric patients with cancer. To address these …

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Combinatorial Targeting of Avapritinib-Driven MAP Kinase Activation in High-Grade Glioma

Carl Koschmann, Kallen Schwark, Kelsey Wink, Antonella De Cola et autres

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Expert meeting report: epidemiology and management of acquired hypothalamic obesity

Hermann L. Müller, Ute K. Bartels, Christian Denzer, Ulrich Dischinger et autres

Acquired hypothalamic obesity (aHO) is a disease characterized by rapid, clinically significant, and persistent weight gain resulting from damage to hypothalamic structures. aHO is associated with substantial morbidity, increased mortality, and marked impairment in quality of life. Etiologies include craniopharyngioma and other …

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The HIT Network for Children and Adolescents With CNS Tumors Facilitates Improvements of Diagnostic Assessments, Multimodal Treatments, Individual Counseling, and Research in Germany, Austria, and Switzerland

Stefan Rutkowski, Michael C. Frühwald, Gudrun Fleischhack, Stephan Tippelt et autres

BACKGROUND: The HIT network was established in 2000 to create a population-based structure aiming to improve survival rates and reduce late effects for children with central nervous system (CNS) tumors by conducting comprehensive clinical trials. METHODS: The HIT network currently consists of …

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Multidimensional profiling of heterogeneity in supratentorial ependymomas

Daeun Jeong, Sara G. Danielli, Kendra K. Maaß, David R. Ghasemi et autres

Supratentorial ependymomas are aggressive childhood brain cancers that retain features of neurodevelopmental cell types1 and segregate into molecularly and clinically distinct subgroups2,3, suggesting different developmental roots. The developmental signatures, as well as microenvironmental factors, underlying aberrant cellular transformation and behaviour across each …

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A tumor-associated photoreceptor signature unifies distinct central nervous system malignancies

Brian Gudenas, Shiekh Tanveer Ahmad, Bernhard Englinger, Anthony PY Liu et autres

Pineoblastoma is a clinically aggressive childhood brain tumor composed of distinct molecular subgroups with divergent driver genes, demographics, and clinical outcomes. To identify developmental origins and mechanisms governing disease pathogenesis, we derive single-cell transcriptomes from pineal parenchymal tumors, aligning malignant cells with …

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M-PACT leverages cell-free DNA methylomes to achieve robust classification of pediatric brain tumors

Kyle S. Smith, Tom T. Fischer, Katie Han, Anna Kostecka et autres

Cerebrospinal fluid (CSF) liquid biopsies serve as a rich source of tumor-derived cell-free DNA (cfDNA) for evaluating persons with central nervous system (CNS) tumors. However, challenges stemming from trace cfDNA yields and low mutational burden have hindered sensitivity, whereas first-generation clinical assays …

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The ITCC-P4 PDX platform of pediatric cancers for preclinical testing

Aniello Federico, Apurva Gopisetty, Didier Surdez, Yasmine Iddir et autres

Abstract Cancer is the leading cause of disease-related deaths among children in high-income countries. Tumor heterogeneity and lack of mechanism-of-action-based therapeutic options are key challenges to overcome in order to improve pediatric cancer patients’ survival. Here, we report the EU-IMI-2 funded public-private …

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Astroblastoma: Radiologic Characterization with Novel Findings and Integrated Molecular Correlation

Vanessa Rameh, Diego Cardoso Fragoso, Julianne Henneberg, Hannah Schned et autres

Impact of Bevacizumab treatment intervals on surgical interventions in pediatric neuro-oncology

Hannah Schned, Maria Aliotti Lippolis, Cora Hedrich, Natalia Stepien et autres

Abstract Background Bevacizumab (BVZ) is widely used in patients with central nervous system (CNS) tumors. Due to its potential to impair wound healing, a minimum interval of 28 days between BVZ administration and surgery - both before and after the procedure - …

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Molecular and clinical stratification of astroblastomas: Three distinct fusion-defined groups informing risk-adapted treatment strategies

Aniello Federico, Felix Schmitt-Hoffner, Adriana Fonseca, Neal Geisemeyer et autres

BACKGROUND: Astroblastomas are rare brain tumors predominantly affecting children and young adults, for which molecular subtypes and clinical management remain undefined. METHODS: We analyzed tumor samples, molecular profiles, and clinical data from 200 patients, classified as "Astroblastoma, MN1-altered" under WHO criteria, using …

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