Malignant rhabdoid tumour

Malignant rhabdoid tumour (MRT) is a rare and highly aggressive form of cancer that primarily affects children. It was first described in the medical literature in the 1970s and is characterized by the presence of rhabdoid cells, which are large, round cells with eccentric nuclei and abundant cytoplasm.

Epidemiology

MRT is most commonly diagnosed in children under the age of three, but it can occur at any age. The incidence is estimated to be around 1 in 1,000,000 children. There is no known gender or racial predilection.

Pathogenesis

The exact cause of MRT is unknown, but it is believed to be related to mutations in the SMARCB1 gene. This gene is responsible for producing a protein that helps regulate cell growth and division. When this gene is mutated, it can lead to uncontrolled cell growth and the development of a tumour.

Clinical Features

MRT can occur in any part of the body, but it most commonly affects the kidneys, brain, and soft tissues. Symptoms can vary depending on the location of the tumour, but they often include pain, swelling, and a noticeable lump. If the tumour is in the brain, symptoms may also include headaches, nausea, and changes in behaviour or personality.

Diagnosis

Diagnosis of MRT typically involves a combination of imaging studies, such as CT scans or MRIs, and biopsy of the tumour. The diagnosis is confirmed by the presence of rhabdoid cells in the biopsy sample.

Treatment

Treatment for MRT usually involves a combination of surgery, chemotherapy, and radiation therapy. The goal of treatment is to remove or shrink the tumour and prevent it from spreading to other parts of the body. Despite aggressive treatment, the prognosis for MRT is generally poor, with a five-year survival rate of less than 30%.

Research

Research into MRT is ongoing, with scientists working to better understand the genetic changes that lead to this disease and to develop more effective treatments. Clinical trials are also being conducted to test new therapies for MRT.