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Translational Medicine / 转化医学Cancer Epigenomics

Stefan Pfister

斯特凡·普菲斯特

MD

🏢German Cancer Research Center (DKFZ) / Hopp Children's Cancer Center (KiTZ), Heidelberg(德国癌症研究中心 / 霍普儿童癌症中心,海德堡)🌐Germany

Division Head, Pediatric Neurooncology; Director, KiTZ儿科神经肿瘤学部门主任;KiTZ主任

78
h-index
3
Key Papers
4
Awards
3
Key Contributions

👥Biography 个人简介

Stefan Pfister is the global leader in pediatric brain tumor epigenomics, renowned for developing the DNA methylation-based CNS tumor classifier used in diagnostic neuropathology worldwide. His work has defined the molecular subgroups of medulloblastoma, ependymoma, and DIPG, fundamentally transforming pediatric neuro-oncology.

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🧪Research Fields 研究领域

Pediatric Brain Tumor Epigenomics儿科脑肿瘤表观基因组学
DNA Methylation ClassifierDNA甲基化分类器
Medulloblastoma Subgroups髓母细胞瘤亚组
DIPG EpigeneticsDIPG表观遗传学
CNS Tumor Diagnostics中枢神经系统肿瘤诊断

🎓Key Contributions 主要贡献

DNA Methylation-Based CNS Tumor Classifier

Developed and validated the Heidelberg CNS tumor methylation classifier (www.molecularneuropathology.org), now integrated into WHO CNS tumor classification and used in diagnostic laboratories worldwide to resolve ambiguous diagnoses.

Molecular Subgroups of Medulloblastoma

Co-led landmark genomic studies defining four molecular subgroups of medulloblastoma (WNT, SHH, Group 3, Group 4) with distinct epigenomes, driver genes, and prognoses, reshaping stratified treatment approaches.

H3K27M DIPG Epigenomics

Performed comprehensive epigenomic profiling of H3K27M-mutant DIPG tumors, revealing global H3K27me3 redistribution patterns and identifying synthetic lethal dependencies informing clinical trials.

Representative Works 代表性著作

[1]

Molecular classification of brain tumors using DNA methylation profiling

Nature (2018)

Presented genome-wide methylation profiling of 2,801 CNS tumors across 82 methylation classes, establishing a reference for integrated CNS tumor diagnostics.

[2]

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

Nature (2012)

Comprehensive genomic study revealing subgroup-specific structural variants and driver events in medulloblastoma, defining distinct biological entities.

[3]

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

Acta Neuropathologica (2012)

First large-scale clinicopathological characterization of H3K27M DIPG as a distinct and uniformly lethal entity.

🏆Awards & Recognition 奖项与荣誉

🏆German Cancer Prize
🏆ISPNO Lifetime Achievement Award
🏆Helmholtz Young Investigator Award
🏆Member, German National Academy of Sciences Leopoldina

📄Data Sources 数据来源

Last updated: 2026-01-15 | All information from publicly available academic sources

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