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December 8, 2025Cancer Research

Abstract B033: Single-nuclei profiling of LFS development reveals tumour susceptibility

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Authors

DMDavid Malkin

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Overview

Single-nuclei RNA sequencing reveals developmental trajectories in Li-Fraumeni Syndrome, indicating tripled tumor susceptibility including rhabdomyosarcoma.

Key Points

  • This research aims to explore how developmental disruption in Li-Fraumeni Syndrome predisposes tissues to tumorigenesis.
  • Conducted single-nuclei RNA sequencing on RMS tumors, muscle from LFS and WT mice, and embryonic limb buds.
  • Collected limb buds at embryonic days 10, 12, 14, and 16 for transcriptomic analysis.
  • Mapped lineage-specific transcriptomic signatures back to embryonic lineages for comparisons.
  • Identified a stress-primed transcriptional program distinctive to LFS tissues.
  • Observed stage-specific alterations in cell type proportions in LFS embryos compared to WT.
  • Detected widespread dysregulation in RNA-associated and developmental programs linked to RMS susceptibility.

Cite This Study

David Malkin (2025) studied this question.

synapsesocial.com/papers/69362f574fa91c937236da4ahttps://doi.org/10.1158/1538-7445.canevol25-b033
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Abstract 625: Early tumor priming in Li-Fraumeni Syndrome muscle using a rhabdomyosarcoma model.2026
  2. 2Abstract A009 Single cell transcriptomic signature of Li-Fraumeni Syndrome soft tissue sarcomas2024
  3. 3Abstract B039: Exploring the early genetic determinants of tumor risk in Li-Fraumeni Syndrome2025
  4. 4Abstract 3282: Metabolic reprogramming in Li-Fraumeni Syndrome underlies the pre-cancer niche and cancer predisposition2026
  5. 5Abstract 605: Mapping loss of heterozygosity in Li-Fraumeni Syndrome to uncover early molecular drivers of tumorigenesis.2026