NTSR2
NTRK2: A Genetic Driver of Cancer with Therapeutic Implications
Description
NTN (neurotrophin) receptor tyrosine kinase 2 (NTRK2) is a receptor tyrosine kinase encoded by the NTRK2 gene. It is one of three members of the NTRK family, which play crucial roles in neurodevelopment and signaling. NTRK2 is expressed in both the central and peripheral nervous systems and is involved in neuronal survival, differentiation, and function.
Mutations in the NTRK2 gene can lead to the constitutive activation of the receptor, promoting tumor growth and progression. These mutations can occur in a variety of cancers, including:
- Lung cancer: Approximately 1-2% of lung adenocarcinomas harbor NTRK2 mutations, making it one of the most common genomic alterations in this tumor type.
- Infantile fibrosarcoma: NTRK2 mutations are found in approximately 90% of infantile fibrosarcomas, a rare type of childhood cancer.
- Glioblastoma: NTRK2 mutations are present in about 2-3% of glioblastomas, the most common type of primary brain cancer.
- Other cancers: NTRK2 mutations have also been identified in a variety of other cancers, including colorectal cancer, pancreatic cancer, and thyroid cancer.
Associated Diseases
NTRK2 mutations have been linked to the development of several types of cancer, including:
- Lung adenocarcinoma: NTRK2 mutations are associated with a distinct clinical presentation and poor prognosis in lung adenocarcinoma. Patients with NTRK2-positive tumors tend to be younger and female, and they often have a history of smoking.
- Infantile fibrosarcoma: NTRK2 mutations are the hallmark of infantile fibrosarcoma, a soft tissue tumor that typically occurs in infants and young children. These tumors are often aggressive and have a high risk of recurrence.
- Glioblastoma: NTRK2 mutations are associated with a more aggressive subtype of glioblastoma known as IDH-mutant glioblastoma. Patients with NTRK2-positive glioblastomas tend to have a worse prognosis than those with NTRK2-negative tumors.
Did you Know ?
Approximately 90% of infantile fibrosarcomas harbor NTRK2 mutations, making it one of the most commonly mutated genes in this rare childhood cancer.
