ETV6-NTRK3 gene fusion

ETV6-NTRK3 gene fusion is a specific type of gene fusion that occurs when parts of the ETV6 gene and the NTRK3 gene combine. This fusion is often associated with certain types of cancer, including secretory breast carcinoma and infantile fibrosarcoma.

Overview

The ETV6-NTRK3 gene fusion is a result of a chromosomal translocation, specifically t(12;15)(p13;q25). This translocation leads to the fusion of the ETV6 gene on chromosome 12 and the NTRK3 gene on chromosome 15. The resulting fusion gene produces a protein with the ability to promote uncontrolled cell growth, leading to the development of a tumor.

Role in Cancer

The ETV6-NTRK3 gene fusion has been identified in several types of cancer. In secretory breast carcinoma, the fusion is present in nearly all cases. It is also commonly found in infantile fibrosarcoma, a rare type of soft tissue sarcoma that typically affects children under the age of one.

In addition to these cancers, the ETV6-NTRK3 gene fusion has been identified in a subset of other cancers, including acute myeloid leukemia (AML), congenital mesoblastic nephroma, and cellular congenital mesoblastic nephroma.

Diagnosis and Treatment

The presence of the ETV6-NTRK3 gene fusion can be detected through various genetic testing methods, including fluorescent in situ hybridization (FISH), polymerase chain reaction (PCR), and next-generation sequencing (NGS).

Treatment for cancers with the ETV6-NTRK3 gene fusion often involves surgery, radiation therapy, and/or chemotherapy. Recently, targeted therapies that specifically inhibit the activity of the fusion protein have been developed. These include larotrectinib and entrectinib, which have shown promising results in clinical trials.

See Also

• Gene fusion
• Chromosomal translocation
• Secretory breast carcinoma
• Infantile fibrosarcoma

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