Malignant rhabdoid tumour

A rare and aggressive form of cancer

Malignant rhabdoid tumour (MRT) is a rare and highly aggressive form of cancer that primarily affects young children. It is characterized by the presence of rhabdoid cells, which are large cells with abundant cytoplasm and eccentric nuclei. MRT can occur in various parts of the body, but it most commonly arises in the kidney and the central nervous system.

Presentation

Error creating thumbnail:

Histological image of a rhabdoid tumor showing characteristic rhabdoid cells.

Malignant rhabdoid tumours can present with a variety of symptoms depending on their location. When occurring in the kidney, they may present as an abdominal mass, hematuria, or hypertension. In the central nervous system, symptoms may include headache, vomiting, and neurological deficits.

Pathophysiology

MRT is associated with mutations in the SMARCB1 gene, also known as INI1, which is a tumor suppressor gene. The loss of function of this gene leads to uncontrolled cell growth and tumor development. The exact mechanism by which SMARCB1 mutations lead to rhabdoid tumors is still under investigation.

Diagnosis

The diagnosis of malignant rhabdoid tumour is typically made through a combination of imaging studies and histological examination. Imaging studies such as MRI or CT scan can help identify the presence and extent of the tumor. A biopsy is necessary to confirm the diagnosis, with histological analysis revealing the characteristic rhabdoid cells.

Treatment

Treatment for MRT often involves a combination of surgery, chemotherapy, and radiation therapy. Surgical resection of the tumor is usually attempted, followed by chemotherapy regimens that may include agents such as vincristine, doxorubicin, and cyclophosphamide. Radiation therapy may be used to target residual disease.

Prognosis

The prognosis for patients with malignant rhabdoid tumour is generally poor, with a high rate of recurrence and metastasis. The overall survival rate is low, particularly for tumors that occur outside the kidney. Early detection and aggressive treatment are critical for improving outcomes.

Related pages

• Wilms' tumor
• Neuroblastoma
• Pediatric oncology