Diagnosis of rhabdoid tumours

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This page describes what is involved in the diagnosis of rhabdoid tumours.

Key points

  • Rhabdoid tumours look very similar to other types of tumours on a CT and MRI.
  • Doctors use tests to look for mutation or lose of the INI1/hSNF5 gene on the tumour sample.
  • Rhabdoid tumours are staged or divided into two groups, called localized or metastatic.

Rhabdoid tumours look very similar to other types of brain tumours on CT and MRI. However, it is important to diagnose this type of tumour properly so that it can be treated appropriately. As a result, doctors do not rely only on CT and MRI to make a diagnosis of rhabdoid tumour. In addition to these tests, doctors will use tests to look for mutation or loss of the INI1/hSNF5 gene on the tumour sample from biopsy.

How do you know that a child has a rhabdoid tumour?

Rhabdoid tumours may be misdiagnosed when physicians do not use the tests to look for mutation or loss of INI1/hSNF5. However, as knowledge of these tests becomes more widespread, these types of tumours will be more accurately diagnosed.

What is staging?

Staging determines the extent of treatment that is needed, which depends on the child’s age and factors related to the tumour. Rhabdoid tumours are currently staged, or divided into two groups, called “localized” or “metastatic.”

These stages are based on the collected results of previous treatments of children at hospitals around the world.

A rhabdoid tumour is called localized if the tumour cells have not spread to other parts of the brain or into the cerebrospinal fluid (CSF). This is seen from a lumbar puncture and MRI scan. A rhabdoid tumour is called metastatic if the tumour cells have spread to other parts of the brain or into the cerebrospinal fluid (CSF).

To stage the tumour, the following diagnostic tools are used: computerized tomography (CT) scans, magnetic resonance imaging (MRI) of the brain and spine, and lumbar puncture.

More information


Last updated: July 10th 2009