RNA‑NGS beats karyotype in leukemias
Human Pathology reported that RNA NGS testing outperformed karyotyping in acute leukemias—evidence that sequencing-based assays are moving ahead as the more sensitive diagnostic tool for hematologic malignancies. That trend expands the push to apply NGS methods to non‑gynecologic cytology specimens like body fluids. (x.com)
The Human Pathology report states RNA‑NGS results reclassified cases by assigning a specific ICC/WHO diagnostic category in 51 patients and yielded prognostic information in an additional 21 patients. (sciencedirect.com) A separate real‑world series of 264 leukemia patients found targeted RNA sequencing detected fusion transcripts in 127 patients (48.1%), had an 83.3% concordance with conventional karyotyping, and identified 29 fusion‑positive cases that karyotype missed. (mdpi.com) The Human Pathology authors specifically noted RNA‑NGS uncovered fusion genes and pathogenic splicing variants across acute leukemias and chronic myeloid neoplasms, expanding both diagnostic classification and risk stratification. (sciencedirect.com) A FusionPlex validation study showed RNA‑NGS achieved 100% sensitivity and specificity versus karyotype/FISH/RT‑qPCR on 28 B‑ALL fixed cytogenetic pellets, with four paired fixed versus cryopreserved samples showing 100% concordance for fusion detection. (wileyonlinelibrary.com) Preanalytical guidance for RNA sequencing flags RNA yield, fixation method, and specimen type (small biopsy, FNA, body fluid) as critical determinants of success when applying targeted RNA‑NGS to low‑input cytology material. (link.springer.com) National and regional pathology groups report moving targeted RNA‑panel validation into routine hematologic workflows—some programs cite funding and policy changes that enabled adoption of combined DNA/RNA NGS panels for hematologic neoplasms. (pathologyjournal.rcpa.edu.au)
