ETV6-NTRK3 gene fusion
ETV6-NTRK3 Gene Fusion
ETV6-NTRK3 gene fusion (pronounced: E-T-V-six-N-T-R-K-three gene fusion) is a specific type of chromosomal translocation that results in the fusion of two genes, ETV6 and NTRK3. This fusion is associated with various types of cancer, including infantile fibrosarcoma, congenital mesoblastic nephroma, and secretory breast carcinoma.
Etymology
The term "ETV6-NTRK3 gene fusion" is derived from the names of the two genes involved. ETV6 stands for "ETS Variant 6", a gene located on chromosome 12 that encodes a protein involved in the regulation of cell growth and cell division. NTRK3 stands for "Neurotrophic Tyrosine Kinase, Receptor, Type 3", a gene located on chromosome 15 that encodes a protein involved in neuronal differentiation and survival.
Mechanism
The ETV6-NTRK3 gene fusion occurs when a piece of chromosome 12 containing the ETV6 gene and a piece of chromosome 15 containing the NTRK3 gene swap places. This results in a new gene that combines parts of both ETV6 and NTRK3. The protein produced by this fusion gene is thought to promote uncontrolled cell growth and division, leading to the development of cancer.
Related Terms
- Chromosomal translocation: A type of chromosomal abnormality in which a chromosome breaks and a portion of it reattaches to a different chromosome.
- ETV6: A gene that encodes a protein involved in the regulation of cell growth and division.
- NTRK3: A gene that encodes a protein involved in neuronal differentiation and survival.
- Infantile fibrosarcoma: A rare type of soft tissue cancer that typically occurs in infants and young children.
- Congenital mesoblastic nephroma: A rare type of kidney tumor that typically occurs in infants.
- Secretory breast carcinoma: A rare type of breast cancer that can occur in both adults and children.
External links
- Medical encyclopedia article on ETV6-NTRK3 gene fusion
- Wikipedia's article - ETV6-NTRK3 gene fusion
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