What is an NTRK Fusion-Positive Solid Tumour?
NTRK Fusion–Positive Solid Tumours are rare cancers that arise from a specific genetic change called an NTRK gene fusion. Genes normally control how cells grow and divide. In this condition, part of the NTRK gene becomes abnormally attached to another gene. This creates a continuous growth signal inside the cell, causing it to multiply uncontrollably and form a tumour.
These tumours are not limited to one organ. They can develop in different parts of the body, such as the lungs, thyroid, colon, pancreas, soft tissues, brain, or salivary glands. What makes this condition unique is that the cancer is defined more by its genetic change than by its location in the body.
Incidence
NTRK fusion cancers are rare overall, but they can occur at any age, including in children and adults. In some rare childhood tumours, NTRK fusions are more common. In common adult cancers like lung or colon cancer, the NTRK fusion is present in only a very small percentage of patients.
Because genetic testing was not widely available in the past, many cases were not identified. With modern molecular testing, more cases are now being correctly diagnosed.
Symptoms
The symptoms depend entirely on where the tumour is located. If the tumour develops in the lungs, it may cause persistent cough, chest pain, or breathing difficulty. If it forms in the thyroid, a person may notice swelling in the front of the neck or difficulty swallowing.
When present in the colon, symptoms may include abdominal pain, changes in bowel habits, or bleeding. In soft tissues, it may appear as a painless growing lump. General symptoms like weight loss, fatigue, or weakness may occur in advanced stages.
Diagnosis
Diagnosis requires imaging tests such as CT scan or MRI to locate the tumour. However, the key step is molecular testing of the tumour tissue to detect the NTRK gene fusion. Without genetic testing, this diagnosis cannot be confirmed.
Treatment
The most important treatment is targeted therapy. Special medicines known as TRK inhibitors are designed specifically to block the abnormal NTRK fusion protein. These drugs can be highly effective, even in advanced cancer. Surgery, chemotherapy, or radiation may also be used depending on the tumour type and stage.
Prognosis
The prognosis has improved significantly because of targeted treatment. Many patients respond well to TRK inhibitors, sometimes with long-lasting control of the disease. Early identification of the gene fusion greatly improves treatment success.
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