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Record W7135013472 · doi:10.1093/neuped/wuaf001.132

METB-08. Unraveling the cellular diversity and spatial architecture of infant-type hemispheric gliomas using multi-omic profiling

2025· article· en· W7135013472 on OpenAlex
Andrea J De Micheli, Carlos Biagi, Costanza Lo Cascio, Andreas Postlmayr, Susanne Dettwiler, Regina Reimann, Théo Ribierre, Michal Zápotocký, Liana Nobre, Cynthia Hawkins, Florence M G Cavalli, Mariella G. Filbin, Ana S Guerreiro Stucklin

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueNeuro-Oncology Pediatrics · 2025
Typearticle
Languageen
FieldMedicine
TopicGlioma Diagnosis and Treatment
Canadian institutionsHospital for Sick ChildrenUniversity of Alberta
Fundersnot available
KeywordsChromatinTranscriptomeReceptor tyrosine kinaseNeurogenesisNeural stem cellProgenitor cellGliomaTranscription factorSomatic cellEpigenomics

Abstract

fetched live from OpenAlex

Abstract Infant-type hemispheric gliomas (IHGs) are rare receptor tyrosine kinase (RTK)-driven tumors with fusions in ALK, ROS1, MET, and NTRK genes. Aberrant RTK activation may interfere with normal neural development, derailing developing cells onto hyperproliferative and divergent trajectories. Key questions about tumor composition, cell of origin, and RTK fusion’s role in tumor formation remain unanswered. We analyzed a cohort of RTK-fused gliomas (n = 13 IHGs) using single-cell multi-omic RNA/ATAC-seq (n = 20) or SmartSeq2 (n = 7) and generated an atlas of over 90’000 transcriptomes and 1M spatially resolved cells. Integration with brain development datasets identified five progenitor-like cancer populations spanning a continuum of states: Radial glia-like, NPC/Neuronal-like, OPC-like, GPC/Astrocyte-like, and cycling. Trajectory analysis revealed a gradient of cancer cells expressing both developmental and mature brain lineage genes. RNA velocity pinpointed Radial glia-like cells as the likely origin, diverging into GPC/Astrocyte-like, NPC/Neuronal-like, and OPC-like lineages. RTK fusion-positive cells were identified across all cells, highlighting early progenitors as drivers of tumorigenesis. Interestingly, a higher proportion NPC/Neuronal-like cells was found in IHGs, suggesting an earlier oncogenic hit in those patients, and lacked MES-like tumor cells found in other gliomas. Chromatin analysis revealed dynamic accessibility changes and transcription factor motifs across cell populations. Radial-glia-like cells displayed open chromatin linked to undifferentiated cells, resembling the state of other cancers. Moreover, GPC/Astrocyte-like and NPC/Neuronal-like populations showed neurogenesis and synaptic function. Motif analysis identified lineage-defining factors and oncogenic regulators, illustrating the role of chromatin remodeling in plasticity and lineage specification. Finally, we mapped the spatial architecture using MERFISH in n = 4 IHGs and uncovered a heterogeneous spatial distribution of cell states. While lacking global structure, cancer cells exhibited higher spatial coherence and clustered into localized regions, suggesting tumor organization recapitulates aberrant brain morphogenesis. Taken together, our multi-omics atlas describes the cellular and spatial heterogeneity of IHGs, providing new insights into their developmental origins, unique biology, and clinical implications.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.496
Threshold uncertainty score0.598

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.025
GPT teacher head0.283
Teacher spread0.258 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it