OnkoSight Advanced^TM Pan-Heme Fusion Panel

Gene fusions have become increasingly important as diagnostic and therapeutic targets in cancer. Fusions are a type of somatic alteration leading to cancer associated with up to 20% of cancer morbidity.

Fusions arise due to genomic rearrangements that include chromosomal inversion, interstitial deletions, duplications, and translocations. Conventional methodologies such as chromosome analysis, fluorescence in situ hybridization (FISH), and RT-PCR have been used to detect gene rearrangements, but these procedures have limitations. For example, t(12;21)(p13;q22) with ETV6-RUNX1 is often missed in the analysis of chromosomes. Moreover, translocations that involve KMT2A (MLL), which has >100 partner genes with numerous different breakpoints, are not fully covered by the limited number of primer sets used in RT-PCR.

Clinical Utility of Gene Fusions in Hematology

• Diagnosis and classification of various myeloid and lymphoid neoplasms
• Subgrouping and prognostication in leukemia
• Modification of treatment intensity or early stem cell transplantation (i.e., KMT2A and BCR-ABL1 translocations)
• Eligibility to targeted molecular drugs (e.g., tyrosine kinase inhibitors)
• Identification of potential clinical trial eligibility

Test Information