What is Translocation Renal Cell Carcinoma (Xp11.2)?
Translocation renal cell carcinoma (Xp11.2) is a rare type of kidney cancer that is caused by a specific genetic change called a chromosomal translocation. In this condition, parts of two genes join together abnormally, most commonly involving the TFE3 gene on chromosome Xp11.2. This genetic change causes kidney cells to grow in an uncontrolled way and form a tumour.
Incidence
This cancer is more often seen in children, teenagers, and young adults, but it can also occur in older adults. In younger people, it may behave less aggressively, while in adults it can be more serious. Because it is uncommon and can look similar to other kidney cancers, it is sometimes difficult to recognize early.
Symptoms
In the early stages, many people do not feel unwell. As the tumour grows, symptoms may slowly appear. A person may notice blood in the urine, which can be visible or found only on testing. Pain in the side or lower back may develop, especially on one side. Some people feel a lump or heaviness in the abdomen. General symptoms such as tiredness, loss of appetite, fever, or weight loss may also occur as the disease progresses.
Diagnosis
To identify this cancer, imaging tests such as ultrasound, CT scan, or MRI are used to detect a mass in the kidney. However, imaging alone is not enough to confirm this specific type. A biopsy or examination of the removed tumour under the microscope is needed. Special laboratory tests are then done to detect the TFE3 gene change, which confirms the diagnosis of translocation renal cell carcinoma.
Treatment
The main treatment for this cancer is surgery, where part or all of the affected kidney is removed, depending on the size and location of the tumour.
Surgery is often effective when the cancer is found early and confined to the kidney. If the tumour has spread to other parts of the body, additional treatments such as targeted therapy or immunotherapy may be used to slow the disease. These treatments work by attacking specific pathways used by cancer cells to grow.
Prognosis
The outlook depends on several factors, including the age of the patient, the size of the tumour, and whether it has spread. Children and young patients often have a better outcome, especially when the cancer is removed early. In adults, the disease may behave more aggressively and needs closer follow-up.
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