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December 8, 2025Blood

Integrating single-cell whole genome and transcriptome sequencing to track the clonal evolution of TP53-mutated myeloid neoplasms

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Authors

SSSarun SereewattanawootSCSheng F. CaiFMFrancesco Maura

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Overview

Integration of single-cell genome and transcriptome sequencing reveals clonal evolution in TP53-mutated myeloid neoplasms, suggesting therapy-related genomic changes.

Key Points

  • To investigate the role of TP53 mutations in the clonal evolution of myeloid neoplasms using advanced sequencing techniques.
  • Integrated single-cell whole genome sequencing and transcriptome sequencing
  • Analyzed 28 samples from 20 TP53-mutated patients
  • Classified cells with ≥3 copy number variations as complex karyotype.
  • Detected copy number variations in all MN/tMN samples, but not in CH/CCUS samples
  • Identified distinct modes of clonal evolution in patients with complex karyotype
  • Found that chr19p hypergain emerged after therapy in some patients, suggesting it is a late event.

Cite This Study

Sereewattanawoot et al. (2025) studied this question.

synapsesocial.com/papers/693624d74fa91c937236d147https://doi.org/10.1182/blood-2025-5014
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