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The Pathologist / Issues / 2025 / October / Rhabdomyosarcoma Revealed The Mutations Behind the Tumors / Summary
Oncology Biochemistry and molecular biology Technology and innovation

Rhabdomyosarcoma Revealed: The Mutations Behind the Tumors

Targeted RNA sequencing identifies oncogenic alterations in 11 of 12 pediatric fusion-negative rhabdomyosarcoma cases, according to a recent study.

10/15/2025 News 2 min read
article Full Article Summary Notecard

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A recent study published in Pediatric and Developmental Pathology explored the molecular characteristics of pediatric fusion-negative rhabdomyosarcoma by analyzing tumors from 12 patients aged 6 days to 15 years. Utilizing targeted RNA sequencing, the researchers achieved high sensitivity and specificity in detecting genetic alterations that correlate with the tumors' clinicopathologic features. Notably, mutations in the RAS pathway and FGFR4 were found, along with DICER1 mutations in certain cases. This comprehensive analysis enhances understanding of rhabdomyosarcoma, potentially leading to improved treatments.

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