S. M. Pfister

Cell-state plasticity drives heterogeneity in Group 3/4 medulloblastoma

This study identifies cell-state plasticity as a driver of heterogeneity in Group 3/4 medulloblastomas, showing that transcription factor perturbation can redirect tumor cells along different differentiation trajectories.

Medulloblastoma oncogene aberrations are not involved in tumor initiation, but essential for disease progression and therapy resistance

The paper uses single-cell technologies to show that large-scale chromosomal aberrations drive medulloblastoma initiation, while single-gene oncogenic events like MYC contribute to progression and therapy resistance.

Compartments in medulloblastoma with extensive nodularity are connected through differentiation along the granular precursor lineage

The paper uses single-cell transcriptomics to show how two compartments in medulloblastoma are connected through a migrating precursor stage, revealing spatial and developmental links between proliferating and differentiated tumor cells.

Chromosome 8 gain drives cancer progression by hijacking the translation factor 4E-BP1 sensitizing for targeted CDK4/6 inhibition

This study identifies chr8 gains and 4E-BP1 expression as prognostic markers in Ewing sarcoma, showing they drive cancer progression by promoting proliferation and sensitizing to CDK4/6 inhibitors.

Cellular development and evolution of the mammalian cerebellum

This study uses single-nucleus RNA-sequencing to compare cerebellar development across human, mouse, and opossum, revealing conserved and species-specific gene expression patterns.

Mapping pediatric brain tumors to their origins in the developing cerebellum

The paper maps the cellular origins of three common pediatric brain tumors using a single-nucleus atlas and transcriptome data, identifying lineage-specific origins and potential therapeutic targets.

Comprehensive analysis of mutational signatures in pediatric cancers

This study analyzes mutational signatures in pediatric cancers, finding fewer active signatures compared to adult cancers and linking specific signatures to TP53 mutations and chromothripsis.

Single cell multi-omics analysis of chromothriptic medulloblastoma highlights genomic and transcriptomic consequences of genome instability

This study analyzes single-cell multi-omics data from medulloblastoma to explore genomic and transcriptomic impacts of chromothripsis and its subclonal variation.

A comprehensive map of genetic interactions in childhood cancer reveals multiple underlying biological mechanisms

The paper identifies genetic interactions in childhood cancers using a statistical pipeline, revealing 15 co-occurring and 27 mutually exclusive gene pairs, with most mechanisms linked to tumor subtypes or pathways.

Establishment of a simplified preparation method for single-nucleus RNA-sequencing and its application to long-term frozen tumor tissues

The paper develops a simplified method for isolating nuclei from frozen tumor tissues and applies it to analyze pediatric central nervous system tumors using snRNA-seq.

A subset of pediatric thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR

This study identifies a distinct subset of pediatric gliomas with EGFR alterations, H3K27me3 loss, and broad tumor localization, suggesting EGFR inhibition as a potential therapy.

Cellular mRNA signals in human kidney tumors

This study analyzes mRNA signals in 1,300 kidney tumors to determine their differentiation state and origin, finding that childhood tumors show fetal signals while most adult tumors do not, with exceptions in certain cancer types.

Functional loss of a non-canonical BCOR-PRC1.1 complex accelerates SHH-driven medulloblastoma formation

This study shows that loss of BCOR in SHH-medulloblastoma accelerates tumor formation by disrupting the BCOR-PRC1.1 complex and increasing Igf2 expression.