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Translational Medicine / 转化医学Pediatric Brain Tumors

Stefan M. Pfister

MD

🏢German Cancer Research Center (DKFZ) / Hopp Children's Cancer Center Heidelberg (KiTZ)🌐Germany

Head, Division of Pediatric Neuro-Oncology, DKFZ; Director, Hopp Children's Cancer Center Heidelberg (KiTZ); Professor, Heidelberg University Hospital

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Key Papers
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Awards
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Key Contributions

👥Biography 个人简介

Stefan M. Pfister, MD is Head of the Division of Pediatric Neuro-Oncology at the German Cancer Research Center (DKFZ), Director of the Hopp Children's Cancer Center Heidelberg (KiTZ), and Professor at Heidelberg University Hospital. He is one of the world's preeminent pediatric neuro-oncology researchers, having co-led the molecular revolution that transformed the classification of virtually all pediatric and adult brain tumor types through comprehensive genomic and epigenomic characterization. His contributions include foundational work on diffuse intrinsic pontine glioma (DIPG), medulloblastoma subgrouping, and the development of DNA methylation-based brain tumor classification—now used clinically worldwide. Dr. Pfister co-developed the DNA methylation-based classifier for CNS tumors (brain tumor methylation classifier), a machine learning tool trained on thousands of reference samples that provides objective, methylation-based diagnoses for brain tumor histologies that are challenging by conventional pathology alone. This tool, freely available via the DKFZ web portal, has been integrated into neuropathology practice in leading centers globally and was a central component of the WHO 2021 CNS tumor classification. Simultaneously, his group characterized H3K27M mutations in DIPG as defining oncogenic events altering the epigenetic landscape and identified targetable vulnerabilities including EZH2 and HDAC inhibition. Beyond DIPG, Dr. Pfister has co-led comprehensive genomic characterization of pediatric GBM, ependymoma, and other CNS tumors, defining new disease entities and prognostic subgroups. His Heidelberg-based program is among the most productive in the world in pediatric brain tumor biology, and his collaborative networks—including the Children's Oncology Group (COG) and SIOPE—have translated genomic discoveries into risk-adapted clinical trials. He is a recipient of the German Cancer Prize and multiple international honors.

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🧪Research Fields 研究领域

Pediatric CNS Tumor Genomics
DIPG H3K27M Mutation
DNA Methylation-Based Brain Tumor Classification
Medulloblastoma Molecular Subgroups
Pediatric High-Grade Glioma

🎓Key Contributions 主要贡献

H3K27M Mutation in DIPG and Pediatric High-Grade Glioma

Co-discovered that K27M mutations in H3F3A (encoding histone H3.3) are present in over 80% of DIPGs, defining a new molecular entity (now diffuse midline glioma, H3K27-altered) and elucidating how these mutations drive global histone H3K27 trimethylation loss and epigenetic dysregulation.

DNA Methylation-Based CNS Tumor Classification

Co-developed the DKFZ brain tumor methylation classifier—a genome-wide DNA methylation profiling tool that objectively classifies CNS tumors into over 80 molecular classes with high accuracy, now used clinically at hundreds of centers worldwide and integrated into WHO 2021 CNS classification.

Medulloblastoma Molecular Subgroup Biology

Co-led comprehensive genomic characterization of medulloblastoma identifying four core molecular subgroups (WNT, SHH, Group 3, Group 4) with distinct clinical behaviors, further refined into subtypes with specific driver events, providing the molecular framework for risk stratification in clinical trials.

Pediatric CNS Tumor Genomics Consortium Leadership

Led or co-led large-scale international consortia for pediatric brain tumor genomics including the Pediatric Brain Tumor Consortium and SIOPE DIPG network, generating the comprehensive genomic reference datasets that underpin modern pediatric neuro-oncology classification and trial design.

Representative Works 代表性著作

[1]

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

Acta Neuropathologica (2012)

Landmark study characterizing H3K27M mutations as defining molecular events in DIPG, with profound prognostic implications and mechanistic insights into epigenetic dysregulation.

[2]

Molecular classification of brain tumors by DNA methylation profiling

Nature (2018)

Comprehensive demonstration that genome-wide DNA methylation profiling can classify CNS tumors into 91 molecular classes with diagnostic accuracy exceeding histopathology, transforming neuropathology practice.

[3]

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

Nature (2012)

Comprehensive structural genomic analysis of 1,000 medulloblastomas revealing subgroup-specific driver events, copy number alterations, and translocations shaping four core molecular subgroups.

[4]

The somatic genomic landscape of glioblastoma

Cell (2013)

TCGA expanded analysis of 291 GBMs further delineating core driver pathways, focal amplifications/deletions, and providing a comprehensive genomic foundation for therapeutic target identification.

🏆Awards & Recognition 奖项与荣誉

🏆German Cancer Prize (Deutscher Krebspreis)
🏆Ernst Jung Prize for Medicine
🏆ERC Consolidator Grant
🏆SIOPE Young Investigator Award

📄Data Sources 数据来源

Last updated: 2026-04-05 | All information from publicly available academic sources

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