Symptoms and signs

  • Abdominal swelling
  • A palpable lump
  • Haematuria (old or frank blood)
  • Pallor
  • Tiredness
  • Unexplained, recurrent pyrexia
  • Back to back viral illnesses
  • Constipation
  • Cough or shortness of breath 

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. These include in the brain and spine (AT/RT) and elsewhere in the body as extra renal rhabdoid tumours (ERRT).

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

Diagnosis is made histologically.

​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.

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

There are three main types of malignant rhabdoid tumours: malignant renal rhabdoid tumours (MRT), extra renal rhabdoid tumours (ERRT) and atypical teratoid rhabdoid tumours (AT/RT)

Treatment

The main stay of treatment is intensive chemotherapy, surgery and in some children radiotherapy.

Prognosis

Survival of children with rhabdoid tumours is poor. It is slightly better in children that are diagnosed at an older age or with a sporadic mutation, but outcomes remain poor.

Median survival of children is less than 12 months after diagnosis.

​80% of rhabdoid tumours have metastasized at diagnosis.

Of the children presenting with metastatic disease (80% of cases), just 8% of children will survive 18 months.

Almost all survivors are from the 20% that have no evidence of spread at diagnosis.

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.