NTRK Gene Fusion: A Burgeoning Marker for Pan-Cancer Targeted Therapy


What is NTRK gene fusion?

A NTRK gene fusion is a mutation that occurs at a piece of a chromosome containing NTRK gene, causing break off and re-join of it with a gene at another chromosome. NTRK gene fusion leads to activation of downstream signalling pathways and acts as an oncogenic-driver for multiple types of paediatric and adult solid tumours. NTRK gene fusion can present across cancer including breast cancer and non-small cell lung cancer.

NTRK gene can abnormally fuse with other genes resulting in growth signals that lead to carcinoma at different organs in the human body. Although TRK gene fusion pan-cancer is rare, it can be present in any patient regardless of age (adult or paediatric).

Why is it important? Significance of NTRK gene fusion

NTRK gene fusions can be found in approximately 1% of solid tumours and more than 20 tumour types. In certain rare tumour type, such as secretory breast cancer and congenital meroblastic nephroma, these fusions are considered as pathogenic and they can occur in more than 90% of cases.

Other tumours with lower NTRK fusion frequencies (5-25%) include papillary thyroid cancer and pediatric gliomas etc. Nevertheless, NTRK gene fusion is also detected in less than 5% of the wide range of common tumours such as adult brain tumour, non-small cell lung cancer, breast and renal cell carcinoma.

Biomarker for pan-cancer TRK inhibitors

For the past decades, oncology treatment has been approved for cancer indication based on tumour histological findings at the primary cancer site. With the recent approval of treatments for patients with NTRK gene fusion, biomarker-guided companion diagnostic is driving a paradigm shift of cancer treatment.

NTRK gene fusion was discovered as a pan-cancer biomarker, which can be found in most tumour types. Patients with NTRK fusion-positive cancers are associated with high response rates to TRK inhibitor therapies (e.g. larotrectinib and entrectinib). Therefore, NTRK fusion biomarker test can be useful in guiding treatment for individuals was solid tumours.

Our mission on precision oncology

Every cancer patient is unique. One’s cancer treatment may not be beneficial to treat others. Precision oncology can help us identify the exact driver of the cancer and treat it effectively. Personalized treatments can offer patients with targeted therapies based on the mutations identified from genetic testing. We leverage next-generation sequencing to perform comprehensive biomarker testing for targeted therapies, such that patients can benefit from better clinical outcome, and longer survival time when compared to conventional chemotherapy.