ArticlePediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Fusion-Negative Rhabdomyosarcoma: Clinical Application of Targeted RNA Sequencing.
Article in Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundRhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood. For stratification purposes, rhabdomyosarcoma is classified into fusion-positive RMS (alveolar rhabdomyosarcoma) and fusion-negative RMS (embryonal or spindle cell/sclerosing, FN-RMS) subtypes according to its
methodsTwelve tumors were analyzed through targeted RNA-Seq using the Trusight Pancancer panel from Illumina. Molecular alterations were then correlated with the clinicopathological features.
resultsOf the 12 tumors analyzed, we identified 6 embryonal rhabdomyosarcomas (ERMSs) harboring mutations in key signaling molecules (
conclusionWe illustrate case examples demonstrating how a combined morphological and molecular approach with targeted RNA-Seq can aid in diagnosis and identify clinically actionable alterations in pediatric FN-RMS.
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