Malignant rhabdoid tumours (MRT) are one of the most aggressive and lethal childhood tumours known. They were initially thought to occur exclusively in the kidney, but are now known to occur in a number of locations.

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Symptoms and signs are very similar to those of children presenting with Wilms tumours. Symptoms may be more marked (pyrexia, haematuria and hypertension), but usually are not possible to distinguish on symptoms alone.

 

Diagnosis is made histologically.

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Typically, malignant rhabdoid tumours are found in very young children – two thirds of cases occur under 12 months of age.

 

Malignant rhabdoid tumours are have characteristic genetic changes, with a SMARCB1 mutation of the INI1 gene. A third of these are hereditary (Rhabdoid tumour predisposition syndrome), with two thirds being sporadic mutations.

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The rare families affected by this gene mutation will need significant genetic counselling as multiple family members could be involved.

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Treatment

Malignant rhabdoid tumours have no standardised treatment protocol.  As such, most children will be enrolled into clinical trials. The main stay of treatment is intensive chemotherapy, surgery, followed by intensive chemotherapy and radiotherapy again.

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Prognosis

Survival remains poor, with median survival less than 12 months after diagnosis.

80% of rhabdoid tumours have metastasized at diagnosis.

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Of the children presenting with metastatic disease (80% of cases), just 8% of children will survive 18 months, showing the immense importance of early diagnosis as almost all survivors are from the 20% that present prior to evidence of metastatic spread.

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Rhabdoid families support group

For parents and carers of children who have received a diagnosis of a rhabdoid tumour (malignant rhabdoid tumour (renal and extra renal) or AT/RT.

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