Pablo Hernáiz Driever
A5029448949- Glioma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Neurofibromatosis and Schwannoma Cases
- Meningioma and schwannoma management
- Chromatin Remodeling and Cancer
- Histone Deacetylase Inhibitors Research
- Pharmacological Effects and Toxicity Studies
- Ferroptosis and cancer prognosis
- Cancer Genomics and Diagnostics
- Radiomics and Machine Learning in Medical Imaging
- Protein Degradation and Inhibitors
- Childhood Cancer Survivors' Quality of Life
- Brain Metastases and Treatment
- Epigenetics and DNA Methylation
- Advanced Neuroimaging Techniques and Applications
- Cancer-related molecular mechanisms research
- Renal and related cancers
- RNA modifications and cancer
- Cancer Treatment and Pharmacology
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Spinal Dysraphism and Malformations
- Cancer Mechanisms and Therapy
- Sarcoma Diagnosis and Treatment
- Hemispheric Asymmetry in Neuroscience
Charité - Universitätsmedizin Berlin
2016-2025
Humboldt-Universität zu Berlin
2004-2025
Freie Universität Berlin
2018-2025
Berlin Institute of Health at Charité - Universitätsmedizin Berlin
2020-2021
Kliniken der Stadt Köln
2014-2015
University of Würzburg
2012
University of Bonn
2012
University Medical Center of the Johannes Gutenberg University Mainz
2012
Johannes Gutenberg University Mainz
2012
University Hospital Augsburg
2012
Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma genes have not been defined and screening guidelines for genetic counselling testing paediatric patients are available. We aimed to assess define these provide evidence future guidelines.
The Hirntumorstudien (HIT)-LGG-1996 protocol offered a comprehensive treatment strategy for pediatric patients with low-grade glioma (LGG), ie, observation, surgery, adjuvant radiotherapy, and chemotherapy to defer the start of irradiation in young children. In this current study, we sought determine clinical factors progression survival. Between October 1, 1996 March 31, 2004, 1031 were prospectively recruited into an observation arm (n = 668) nonsurgical stratifying 12 months...
Infant high-grade gliomas appear clinically distinct from their counterparts in older children, indicating that histopathologic grading may not accurately reflect the biology of these tumors. We have collected 241 cases under 4 years age, and carried out histologic review, methylation profiling, custom panel, genome, or exome sequencing. After excluding tumors representing other established entities subgroups, we identified 130 to be part an "intrinsic" spectrum disease specific infant...
The large diversity of central nervous system (CNS) tumor types in children and adolescents results disparate patient outcomes renders accurate diagnosis challenging. In this study, we prospectively integrated DNA methylation profiling targeted gene panel sequencing with blinded neuropathological reference diagnostics for a population-based cohort more than 1,200 newly diagnosed pediatric patients CNS tumors, to assess their utility routine neuropathology. We show that the multi-omic...
Abstract BRAF genomic alterations are the most common oncogenic drivers in pediatric low-grade glioma (pLGG). Arm 1 ( n = 77) of ongoing phase 2 FIREFLY-1 (PNOC026) trial investigated efficacy oral, selective, central nervous system–penetrant, type II RAF inhibitor tovorafenib (420 mg m − once weekly; 600 maximum) patients with -altered, relapsed/refractory pLGG. 60) is an extension cohort, which provided treatment access for -altered pLGG after arm closure. Based on independent review,...
Abstract Background Pediatric low-grade glioma (pLGG) is essentially a single pathway disease, with most tumors driven by genomic alterations affecting the mitogen-activated protein kinase/ERK (MAPK) pathway, predominantly KIAA1549::BRAF fusions and BRAF V600E mutations. This makes pLGG an ideal candidate for MAPK pathway-targeted treatments. The type I inhibitor, dabrafenib, in combination MEK trametinib, has been approved United States Food Drug Administration systemic treatment of...
Abstract BACKGROUND: The authors hypothesized that intensified chemotherapy in protocol HIT‐GBM‐C would increase survival of pediatric patients with high‐grade glioma (HGG) and diffuse intrinsic pontine (DIPG). METHODS: Pediatric newly diagnosed HGG DIPG were treated standard fractionated radiation simultaneous (cisplatin 20 mg/m 2 × 5 days, etoposide 100 3 vincristine, 1 cycle cisplatin + ifosfamide 1.5 g/m days [PEI] during the last week radiation). Subsequent maintenance included further...
<h2>Abstract</h2><h3>Background</h3> The use of chemotherapy to manage newly diagnosed low grade glioma (LGG) was first introduced in the 1980s. One randomised trial has studied two- versus four-drug regimens with a duration 12 months treatment after resection. <h3>Methods</h3> Within European comprehensive strategy for childhood LGG, International Society Paediatric Oncology–Low Grade Glioma (SIOP LGG) Committee launched involving 118 institutions and 11 countries investigate addition...
Abstract Background Controversy exists as to what may be defined standard of care (including markers for stratification) patients with atypical teratoid/rhabdoid tumors (ATRTs). The European Rhabdoid Registry (EU-RHAB) recruits uniformly treated and offers standardized genetic DNA methylation analyses. Methods Clinical, genetic, treatment data 143 from 13 countries were analyzed (2009–2017). Therapy consisted surgery, anthracycline-based induction, either radiotherapy or high dose...
Abstract Introduction A hallmark of pediatric low-grade glioma (pLGG) is aberrant signaling the mitogen activated protein kinase (MAPK) pathway. Hence, inhibition MAPK using small molecule inhibitors such as MEK (MEKi) may be a promising strategy. Methods In this multi-center retrospective centrally reviewed study, we analyzed 18 patients treated with MEKi trametinib for progressive pLGG an individual treatment decision between 2015 and 2019. We have investigated radiological response per...
Abstract Molecular groups of supratentorial ependymomas comprise tumors with ZFTA–RELA or YAP1-involving fusions and fusion-negative subependymoma. However, occasionally cannot be readily assigned to any these due lack detection a typical fusion and/or ambiguous DNA methylation–based classification. An unbiased approach cohort unprecedented size revealed distinct methylation clusters composed ependymal but also various other histologic features containing alternative translocations that...
PURPOSE BRAF V600 mutation is detected in 5%-10% of pediatric high-grade gliomas (pHGGs), and effective treatments are limited. In previous trials, dabrafenib as monotherapy or combination with trametinib demonstrated activity children adults relapsed/refractory V600–mutant HGG. METHODS This phase II study evaluated plus patients pHGG. The primary objective was overall response rate (ORR) by independent review Response Assessment Neuro-Oncology criteria. Secondary objectives included ORR...
To identify prognostic factors in medulloblastoma, a common malignant brain tumor of childhood, expression the oncogene c-myc was examined at mRNA level by situ hybridization. observed 30 72 tumors (42%). The gene copy number determined quantitative PCR from genomic DNA paraffin-embedded tumors. amplification present 5 62 cases (8.3%). Therefore, obviously not cause most samples. Kaplan-Meier estimation revealed significant correlation between and survival (total mean follow-up 4.6 +/- 3.6...
Low grade gliomas (LGGs) constitute the largest, yet clinically and (molecular-) histologically heterogeneous group of pediatric brain tumors WHO grades I II occurring throughout all age groups at central nervous system (CNS) sites. The are characterized by a slow growth rate may show periods arrest. Around 40% LGG patients can be cured complete neurosurgical resection followed close observation. In case relapse, second often is possible. Following incomplete observation recommended, as long...
Objective Using multidisciplinary treatment modalities the majority of children with cancer can be cured but we are increasingly faced therapy-related toxicities. We studied brain morphology and neurocognitive functions in adolescent young adult survivors childhood acute, low standard risk lymphoblastic leukemia (ALL), which was successfully treated chemotherapy. expected that intravenous intrathecal chemotherapy administered will affect grey matter structures, including hippocampus...
Abstract Pediatric low-grade gliomas (pLGG) show heterogeneous responses to MAPK inhibitors (MAPKi) in clinical trials. Thus, more complex stratification biomarkers are needed identify patients likely benefit from MAPKi therapy. Here, we MAPK-related genes enriched MAPKi-sensitive cell lines using the GDSC dataset and apply them calculate class-specific sensitivity scores (MSSs) via single-sample gene set enrichment analysis. The MSSs discriminate non-sensitive cells significantly correlate...
Sodium valproate (VPA) belongs to the group of simple branched-chain fatty acids and due its anticonvulsive activity is broadly applied in treatment epilepsy. We previously showed that VPA able induce cellular differentiation, enhance immunogenicity inhibit proliferation human neuroblastoma (NB) cells vitro. Furthermore, we demonstrated inhibits proliferation, enhances neural cell adhesion molecule expression decreases CD44 rat glioma In present study investigated antitumoral effects on...
Abstract Development of fine motor functions, especially drawing and handwriting, are crucial for performance in school, autonomy everyday life the general human development. A variety neurological psychiatric conditions childhood adolescence stunt normal development skills. We sought to define kinematic parameters movement determine influence gender, laterality handedness extracurricular training on One hundred eighty‐seven children adolescents (mean age: 11.6 years (±S.D.: 3.58), range:...