Fig. 1: Clinical value of genetic analysis by RNA-seq.
From: Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas
During the consensus histopathological review of incorporating fluorescence in situ hybridization analysis, 42 of 47 (89%) patients were diagnosed with known specific solid tumor subtypes whereas the remaining 5 (11%) patients were diagnosed with undifferentiated sarcoma. RNA-seq analysis confirmed and refined histopathological diagnosis in 14 and 5 patients, respectively, and identified novel diagnostic genetic variants in four of the five patients with undifferentiated sarcoma.
