Enigma Genomics
Comprehensive Tumor Profiling – RNA
Comprehensive Tumor Profiling – RNA
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Comprehensive Tumor Profiling (RNA) is a next-generation sequencing (NGS)-based assay that evaluates the RNA expression profile of tumor samples to provide a deeper understanding of tumor biology. Unlike DNA-based testing, RNA profiling focuses on active gene expression, enabling detection of gene fusions, splice variants, and transcriptional changes that may not be visible at the DNA level.
This test is widely used in oncology to identify actionable biomarkers that guide targeted therapy selection, immunotherapy decisions, and clinical trial eligibility. It is particularly valuable for detecting gene fusions in solid tumors and hematologic malignancies, as well as assessing pathway activation that may influence tumor behavior and treatment response.
The results provide clinicians with a comprehensive molecular overview of the tumor, supporting precision oncology and personalized treatment strategies.
Clinical Applications
Detection of gene fusions and rearrangements
Depending on the panel, RNA tumor profiling may detect fusions such as:
ALK fusions (e.g., EML4-ALK in lung cancer)
ROS1 fusions (lung cancer)
RET fusions (lung, thyroid cancers)
NTRK1/2/3 fusions (multiple solid tumors)
FGFR fusions (bladder, cholangiocarcinoma)
BCR-ABL1 fusion (CML – hematologic malignancy)
PML-RARA fusion (acute promyelocytic leukemia)
EWSR1 fusions (sarcomas)
Identification of actionable RNA biomarkers
Tumor classification and molecular subtyping
Therapy selection (targeted therapy & immunotherapy)
Clinical trial matching
Complementary analysis to DNA-based tumor profiling