Multi-layered molecular profiling informs the diagnosis and targeted therapy of desmoplastic small round cell tumor - PubMed

4 hours ago

Multi-omics profiling (genome, transcriptome, methylome, proteome) helps diagnose and guide targeted therapy for desmoplastic small round cell tumor (DSRCT).
In 27% of cases, DSRCT was diagnosed only after molecular profiling, highlighting its diagnostic value in this rare sarcoma.
Despite quiet genomes, 93% of patients received molecular-based treatment recommendations, often based on overexpression of targets like tyrosine kinases, SSTR3/5, and CLDN6.
Recommended therapies, including pazopanib and trastuzumab deruxtecan, achieved disease control in 62% of treated patients, with some long-lasting responses.

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