Area of research
Genetics · Molecular Biology
Research interest
My research program is centered around pediatric brain tumors and aims at elucidating genetic signatures of pediatric astrocytomas and examining how they compare to adults. Our group established that pediatric Glioblastoma Multiforme (GBM), which is one of the deadliest cancers in humans, are molecularly and genetically distinct from adult GBM. We were also the first to identify a new molecular mechanism driving pediatric GBM, namely recurrent somatic driver mutations in histone molecules that lead to amino-acid substitutions at key residues (K27M, K36M, G34V/R). Histones are involved in regulating the development and growth of many body tissues, particularly in the brain and these mutations partly explain why this cancer may remain unresponsive to treatment.
Advancing CNS tumor diagnostics with expanded DNA methylation-based classification
ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip
A diverse landscape of FGFR alterations and co-mutations suggests potential therapeutic strategies in pediatric low-grade gliomas
Germline analysis of an international cohort of pediatric diffuse midline glioma patients
Advancing CNS tumor diagnostics with expanded DNA methylation-based classification
A spatial map of MAPK-activated immunosuppressive myeloid populations in pediatric low-grade glioma
Think zebras: challenges and opportunities for treating rare cancers
Early rhombic lip Protogenin+ve stem cells in a human-specific neurovascular niche initiate and maintain group 3 medulloblastoma
Comments and Controversies in Oncology: The Tribulations of Trials Developing ONC201
Clinical Characteristics and Outcomes of Central Nervous System Tumors Harboring NTRK Gene Fusions
Radiographic and visual response to the type II RAF inhibitor tovorafenib in children with relapsed/refractory optic pathway glioma in the FIREFLY-1 trial
Author Correction: The type II RAF inhibitor tovorafenib in relapsed/refractory pediatric low-grade glioma: the phase 2 FIREFLY-1 trial
A diverse landscape of FGFR alterations and co-mutations defines novel therapeutic strategies in pediatric low-grade gliomas
HGG-39. CLINICAL CHARACTERISTICS AND SURVIVAL OUTCOMES OF DIFFUSE HEMISPHERIC GLIOMA, H3 G34-MUTANT: INTERIM RESULTS OF A MULTICENTRE INTERNATIONAL STUDY
FOXR2 Targets LHX6+/DLX+ Neural Lineages to Drive Central Nervous System Neuroblastoma
CTNI-09. TYPE II RAF INHIBITOR TOVORAFENIB IN RELAPSED/REFRACTORY (R/R) PEDIATRIC LOW-GRADE GLIOMA (PLGG): RESULTS FROM PATIENTS ON A DRUG HOLIDAY (DH) IN THE PHASE 2 FIREFLY-1 TRIAL
LGG-40. TYPE II RAF INHIBITOR TOVORAFENIB IN RELAPSED/REFRACTORY PEDIATRIC LOW-GRADE GLIOMA (PLGG): REVERSIBLE DECREASES IN GROWTH VELOCITY IN THE PHASE 2 FIREFLY-1 TRIAL
The type II RAF inhibitor tovorafenib in relapsed/refractory pediatric low-grade glioma: the phase 2 FIREFLY-1 trial
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
MAPK inhibitor sensitivity scores predict sensitivity driven by the immune infiltration in pediatric low-grade gliomas
LOGGIC/FIREFLY-2: A phase 3, randomized trial of tovorafenib vs. chemotherapy in pediatric and young adult patients with newly diagnosed low-grade glioma harboring an activating <i>RAF</i> alteration.
CTNI-24. CLINICAL ACTIVITY AND SAFETY OF THE RAF INHIBITOR TOVORAFENIB IN PATIENTS WITH OPTIC PATHWAY GLIOMAS IN THE REGISTRATIONAL PEDIATRIC LOW-GRADE GLIOMA ARM OF THE PHASE 2 FIREFLY-1 (PNOC026) STUDY
EPEN-10. SPINAL EPENDYMOMA WITH MYCN-AMPLIFICATION – A DISEASE OF CHILDHOOD AND YOUNG ADULTHOOD WITH DISMAL PROGNOSIS
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas
Structural variants shape driver combinations and outcomes in pediatric high-grade glioma
Extent of Tumor Resection and Survival in Pediatric Patients With High-Grade Gliomas
FOXR2 Is an Epigenetically Regulated Pan-Cancer Oncogene That Activates ETS Transcriptional Circuits
CTNI-68. FIREFLY-1 (PNOC026): PHASE 2 STUDY OF PAN-RAF INHIBITOR TOVORAFENIB IN PEDIATRIC AND YOUNG ADULT PATIENTS WITH RAF-ALTERED RECURRENT OR PROGRESSIVE LOW-GRADE GLIOMA OR ADVANCED SOLID TUMORS
Diagnostics and prospective outcome of a diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters after surgical resection (DGONC): a case report