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Translational Medicine / 转化医学Pediatric Brain Tumors — Medulloblastoma

Stefan M. Pfister

斯蒂凡·普菲斯特

MD

🏢German Cancer Research Center (DKFZ) / Hopp Children's Cancer Center (KiTZ) / Heidelberg University Hospital(德国癌症研究中心/海德堡大学儿童癌症中心)🌐Germany

Division Head, Pediatric Neuro-Oncology, DKFZ; Director, KiTZ Hopp Children's Cancer Center; Professor of Pediatric Oncology, Heidelberg University德国癌症研究中心儿童神经肿瘤学部主任,KiTZ霍普儿童癌症中心主任

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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 Division Head of Pediatric Neuro-Oncology at the German Cancer Research Center (DKFZ) and co-directs the Hopp Children's Cancer Center (KiTZ) at Heidelberg, leading one of the world's most influential pediatric brain tumor research programs. He is internationally recognized for defining the molecular landscape of medulloblastoma and other pediatric CNS tumors through integrative genomics. His group's DNA methylation-based CNS tumor classifier, developed in collaboration with David Capper and Andreas von Deimling, has revolutionized the diagnostic neuropathology of brain tumors worldwide. He was a central contributor to the international consensus defining four molecular subgroups of medulloblastoma (WNT, SHH, Group 3, Group 4)—a classification now embedded in the 2021 WHO CNS tumor classification—and his work on chromatin dysregulation in pediatric cancers has opened new therapeutic directions including EZH2 inhibition for H3K27M-mutant diffuse intrinsic pontine glioma.

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🧪Research Fields 研究领域

Medulloblastoma Molecular Subgrouping髓母细胞瘤分子亚型
Pediatric Brain Tumor Genomics儿童脑肿瘤基因组学
Ependymoma室管膜瘤
ATRT (Atypical Teratoid/Rhabdoid Tumor)非典型畸胎样横纹肌样瘤
DNA Methylation-Based Tumor Classification基于DNA甲基化的肿瘤分类

🎓Key Contributions 主要贡献

Molecular Subgroup Classification of Medulloblastoma

Co-led the international consensus study integrating transcriptomics, copy number analysis, and methylation profiling to definitively establish four molecular subgroups of medulloblastoma (WNT, SHH, Group 3, Group 4), enabling risk stratification and subgroup-specific clinical trials.

DNA Methylation-Based CNS Tumor Classification

Developed the Heidelberg brain tumor methylation classifier (MNP2.0), a genome-wide DNA methylation profiling system that classifies over 100 CNS tumor entities from a single assay, now validated in thousands of cases and adopted by neuropathology centers worldwide.

Genomic Landscape of DIPG and H3 Histone Mutations

Contributed to the discovery of H3.3K27M (H3F3A) mutations as the hallmark alteration of diffuse intrinsic pontine glioma (DIPG) and other midline gliomas, leading directly to the new WHO diagnostic entity "diffuse midline glioma, H3K27M-altered" and EZH2 inhibitor trials.

Pediatric Oncology Multi-Omics Infrastructure

Leads the ICGC PedBrain Tumor and PBTA (Pediatric Brain Tumor Atlas) consortia, generating the most comprehensive multi-omics datasets for pediatric CNS tumors and making them freely available for global research through open-access portals.

Representative Works 代表性著作

[1]

Medulloblastoma comprises four distinct molecular variants

Journal of Clinical Oncology (2011)

International consensus paper defining the WNT, SHH, Group 3, and Group 4 molecular subgroups of medulloblastoma based on integrative genomic analysis of 550 tumors.

[2]

DNA methylation-based classification of central nervous system tumours

Nature (2018)

Landmark study using genome-wide DNA methylation profiling to classify 2,801 CNS tumors into 82 methylation classes, establishing a new gold standard for brain tumor diagnostics.

[3]

Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas

Nature Genetics (2012)

Whole-genome sequencing revealing H3F3A K27M and G34R/V mutations as the most frequent driver alterations in pediatric high-grade gliomas, defining new molecular entities.

🏆Awards & Recognition 奖项与荣誉

🏆German Cancer Prize (Deutscher Krebspreis)
🏆Ernst Jung Prize for Medicine
🏆SIOP Young Investigator Award
🏆Bavarian State Prize for Science

📄Data Sources 数据来源

Last updated: 2026-04-06 | All information from publicly available academic sources

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