Stefan M. Pfister
German Cancer Research Center
GeneCancerInternal medicinePathologyOncologyGene expression profilingDNA methylationGliomaBrain tumorMedulloblastomaEpendymomaMethylationEpigeneticsCancer researchGeneticsBioinformaticsComputational biologyText miningMedicineBiology
779Publications
116H-index
47kCitations
Publications 800
Newest
#1Karam T Alhalabi (DKFZ: German Cancer Research Center)
#2Damian Stichel (DKFZ: German Cancer Research Center)H-Index: 19
Last. Pengbo Beck (DKFZ: German Cancer Research Center)
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Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. DNA methylation profiling has emerged as a useful tool for robust tumor classification, providing new insights into these heterogeneous molecular classes. This is particularly true for rare CNS tumors with a broad morphological ...
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#1Hallie Coltin (U of T: University of Toronto)H-Index: 1
#2Lakshmikirupa Sundaresan (U of T: University of Toronto)H-Index: 1
Last. Daniela Pretti da Cunha Tirapelli (USP: University of São Paulo)H-Index: 22
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Medulloblastoma, a common pediatric malignant central nervous system tumour, represent a small proportion of brain tumours in adults. Previously it has been shown that in adults, Sonic Hedgehog (SHH)-activated tumours predominate, with Wingless-type (WNT) and Group 4 being less common, but molecular risk stratification remains a challenge. We performed an integrated analysis consisting of genome-wide methylation profiling, copy number profiling, somatic nucleotide variants and correlation of cli...
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#1Areeba J Patel (University Hospital Heidelberg)
#2Helin Dogan (University Hospital Heidelberg)
Last. Jürgen Hench (University Hospital of Basel)H-Index: 23
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BackgroundThe 2021 WHO classification of central nervous system tumors includes multiple molecular markers and patterns that are recommended for routine diagnostic use in addition to histology. Sequencing infrastructures for complete molecular profiling require considerable investment, while batching samples for sequencing and methylation profiling can delay turnaround time. We introduce RAPID-CNS2, a nanopore adaptive sequencing pipeline that enables comprehensive mutational, methylation and co...
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#2Elke PfaffH-Index: 19
Last. Mirjam Blattner-Johnson (Cornell University)H-Index: 1
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INFORM is a prospective, multi-national registry gathering clinical and molecular data of relapsed, progressive or high-risk pediatric cancer patients. This report describes long-term follow-up of 519 patients in whom molecular alterations were evaluated according to a pre-defined 7-scale target prioritization algorithm. Mean turnaround time from sample receipt to report was 25.4 days. The highest target priority level was observed in 42 patients (8.1%). Of these, twenty patients received matche...
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#1Philipp Sievers (DKFZ: German Cancer Research Center)H-Index: 12
#2Sophie C. Henneken (DKFZ: German Cancer Research Center)
Last. Kendra K Maaß (DKFZ: German Cancer Research Center)
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Ependymomas encompass a heterogeneous group of central nervous system (CNS) neoplasms that occur along the entire neuroaxis. In recent years, extensive (epi-)genomic profiling efforts have identified several molecular groups of ependymoma that are characterized by distinct molecular alterations and/or patterns. Based on unsupervised visualization of a large cohort of genome-wide DNA methylation data, we identified a highly distinct group of pediatric-type tumors (n = 40) forming a cluster separa...
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#1Lorena BaroniH-Index: 3
Last. Vijay RamaswamyH-Index: 56
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BACKGROUND Within PF-EPN-A, 1q gain is a marker of poor prognosis, however, it is unclear if within PF-EPN-A additional cytogenetic events exist which can refine risk stratification. METHODS Five independent non-overlapping cohorts of PF-EPN-A were analyzed applying genome wide methylation arrays for chromosomal and clinical variables predictive of survival. RESULTS Across all cohorts, 663 PF-EPN-A were identified. The most common broad copy number event was 1q gain (18.9%), followed by 6q loss ...
2 CitationsSource
#1David N. Louis (Harvard University)H-Index: 138
#2Arie Perry (UCSF: University of California, San Francisco)H-Index: 105
Last. Guido Reifenberger (HHU: University of Düsseldorf)H-Index: 118
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The fifth edition of the WHO Classification of Tumors of the Central Nervous System (CNS), published in 2021, is the sixth version of the international standard for the classification of brain and spinal cord tumors. Building on the 2016 updated fourth edition and the work of the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy, the 2021 fifth edition introduces major changes that advance the role of molecular diagnostics in CNS tumor classification. At the same time...
4 CitationsSource
#1Ioannis Sarropoulos (Heidelberg University)H-Index: 3
#2Mari Sepp (Heidelberg University)H-Index: 2
Last. Lena M. Kutscher (Museum für Naturkunde)H-Index: 1
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Organ development is orchestrated by cell- and time-specific gene regulatory networks. In this study, we investigated the regulatory basis of mouse cerebellum development from early neurogenesis to adulthood. By acquiring snATAC-seq profiles for ~90,000 cells spanning eleven stages, we mapped cerebellar cell types and identified candidate cis-regulatory elements (CREs). We detected extensive spatiotemporal heterogeneity among progenitor cells and a gradual divergence in the regulatory programs o...
2 CitationsSource
#1Christian Koelsche (University Hospital Heidelberg)H-Index: 32
#2Jamal Benhamida (MSK: Memorial Sloan Kettering Cancer Center)H-Index: 4
Last. Rolf BusleiH-Index: 44
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Undifferentiated mesenchymal tumors arising from the inner lining (intima) of large arteries are classified as intimal sarcomas (ISA) with MDM2 amplification as their molecular hallmark. Interestingly, undifferentiated pleomorphic sarcomas (UPS) of the heart have recently been suggested to represent the cardiac analog of ISA due to morphological overlap and high prevalence of MDM2 amplifications in both neoplasms. However, little is known about ISAs and cardiac UPS without MDM2 amplifications an...
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#1Stacey Richardson (Newcastle University)H-Index: 3
#2Rebecca M Hill (Newcastle University)H-Index: 8
Last. Maria Vinci (Boston Children's Hospital)H-Index: 9
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BACKGROUND null 90% of tumors) and established genetic drivers (e.g. SHH/WNT/P53 mutations; 60% of rMB events) were maintained from diagnosis. Critically, acquired and maintained rMB events converged on targetable pathways which were significantly enriched at relapse (e.g. DNA damage-signaling) and specific events (e.g. 3p loss) predicted survival post-relapse. CONCLUSIONS rMB is defined by the emergence of novel events and pathways, in concert with selective maintenance of established genetic d...
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