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Integration of whole genome sequencing analysis with unique patient-derived models reveals clinically relevant drug targets in TFCP2 fusion-defined intraosseous rhabdomyosarcoma

GSE287694 Homo sapiens (human) RNA-seq (gene expression) 2 samples Submitted 2025/06/01 Platform GPL24676
At a glance

RNA-seq (gene expression) · human · 2 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Homo sapiens (human)
Topic
Soft tissue sarcomaThis series is part of our curated briefing on it.
Samples
2 samples
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper
Integration of Whole-Genome Sequencing Analysis with Unique Patient-Derived Models Reveals Clinically Relevant Drug Targets in TFCP2 Fusion-Defined RhabdomyosarcomaMolecular cancer therapeutics · 2025
Summary (written by the submitters)
Here we present comprehensive, multi-omic and functional analysis, to discover and preclinically validate novel actionable molecular targets for a rare case of intraosseus rhabdomyosarcoma with TFCP2-rearrangement. Whole genome sequencing analyses of matched patient tumour and xenograft material revealed alterations in gene networks associated with the oncogenic, potentially targetable PI3K/AKT pathway.
Read the full summary ↓
Preclinical assessments revealed that targeting the pathway with a small molecule PI3K/mTOR inhibitor dactolisib presents a promising treatment approach for this rare cancer, decreasing cancer cell viability in vitro and significantly reducing tumour growth in vivo. Parallel identification of the codeletion of adjacent genes CDKN2A and MTAP in these tumours, led us to further explore PRMT5 inhibition as a potential therapeutic approach.
Published in
Integration of Whole-Genome Sequencing Analysis with Unique Patient-Derived Models Reveals Clinically Relevant Drug Targets in TFCP2 Fusion-Defined Rhabdomyosarcoma
Bergsma P, Porazinski S, Istadi A et al. · Molecular cancer therapeutics 2025 · PMID 40621788 · doi:10.1158/1535-7163.MCT-24-0704
This dataset
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE287694_RAW.tar (it can run to tens of gigabytes).

3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1214256 and SRA study SRP559056. Searching any of these in the dataset finder brings you back here.

Samples in this study

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