Oncogenic Fusion
Abnormal gene rearrangement resulting in a chimeric protein that drives cancer development and progression.
Full Definition
A chromosomal abnormality where portions of two different genes become joined together, creating a hybrid gene that produces a fusion protein with oncogenic properties. These genetic rearrangements can result from chromosomal translocations, inversions, insertions, or deletions, and often involve the juxtaposition of regulatory sequences from one gene with coding sequences from another. Oncogenic fusions play crucial roles in various cancer types, particularly sarcomas and some carcinomas, and many serve as therapeutic targets for precision medicines. Examples include BCR-ABL1 in chronic myeloid leukemia, EML4-ALK in lung cancer, and EWSR1-FLI1 in Ewing sarcoma. Detection of specific fusions through molecular testing can guide targeted therapy selection and provide prognostic information.
Usage
Usage note: Often described using gene partner names separated by hyphens (e.g., EML4-ALK fusion).
In Context
- "RNA sequencing identified a novel oncogenic fusion involving the NTRK3 gene." — Molecular diagnostics report
- "The patient's tumor harbored an ALK oncogenic fusion and was treated with crizotinib." — Precision medicine case report