What is a Translocation Renal Cell Carcinoma (Xp11.2)?
Translocation renal cell carcinoma, often referred to as Xp11.2 renal cell carcinoma, is a rare type of kidney cancer. It was first recognised in the early 2000s as a distinct disease after genetic studies revealed that it results from a specific change, or translocation, in the X chromosome at position p11.2.
This cancer is more common in children and young adults, although it can occur at any age. It usually presents as a mass in the kidney and belongs to a group of cancers called MiT family translocation renal cell carcinomas.
Causes and Risk Factors
The main cause of this tumour is a genetic alteration where two genes, including the TFE3 gene on the X chromosome, become abnormally fused together. This gene fusion leads to uncontrolled cell growth and cancer development.
In most cases, these translocations happen randomly and are not inherited. However, a history of previous cancer treatments, particularly chemotherapy with drugs like alkylating agents, has been linked to a slightly higher risk. Because it is a relatively new recognised disease, other risk factors are still being studied.
Symptoms
Translocation renal cell carcinoma may not cause symptoms in its early stages. As it grows, common signs include blood in the urine (hematuria), pain in the side or back, and the presence of a lump or swelling in the abdomen. Some patients may experience unexplained weight loss, fever, or fatigue. In advanced cases, when the cancer has spread, symptoms such as bone pain, cough, or difficulty breathing may also appear.
Diagnosis
Diagnosis requires a combination of imaging studies and laboratory tests. Ultrasound, CT scan, or MRI can detect the kidney mass and evaluate whether the cancer has spread. A biopsy, where a small piece of tissue is taken from the tumour, is necessary for confirmation.
Under the microscope, the tumour may resemble other kidney cancers, so special genetic tests, such as fluorescence in situ hybridisation (FISH) or immunohistochemistry for TFE3, are used to confirm the Xp11.2 translocation.
Treatment
The main treatment for localised disease is surgical removal of the tumour, often through partial or complete nephrectomy (removal of part or all of the kidney). If the cancer has spread, targeted therapies and immunotherapies are used, as standard chemotherapy is usually not very effective. Because this cancer often affects younger patients, doctors aim to preserve as much kidney function as possible. Clinical trials are ongoing to discover more effective therapies.
Prognosis
The outlook for patients with Xp11.2 renal cell carcinoma varies. In children, the prognosis is often better, especially if the tumour is detected early and removed completely. In adults, however, the disease tends to be more aggressive and may spread to other organs, leading to poorer outcomes. Overall, early diagnosis and advances in targeted therapy are improving survival and quality of life for affected patients.
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