Rhabdoid tumours are rare, highly aggressive and often unfavourable tumour diseases that occur primarily in infants and small children. Due to their rarity, there is little reliable data in the medical literature on frequency, causes and promising standardised treatment approaches. Most published studies consist of small case series or a summary of case reports.
Genetics
The group of rhabdoid tumours (irrespective of the anatomical location) have a change in the SMARCB1 gene (hSNF5/INI1) on chromosome 22 in common. To detect this alteration, both immunohistochemical examinations of the tumour tissue and genetic examinations of tumour and blood cells of the affected patients are carried out. In rarer cases, a germline mutation can be detected. Genetic testing of the parents and possibly other family members is then advisable.
Frequency
According to our own survey, around 30-40 children in Germany are diagnosed with rhabdoid tumours every year. Similar figures are recorded in other comparable European countries. At a consensus conference of European representatives of the SIOP Brain Tumour Committee and Italian and German representatives of the soft tissue sarcoma and nephroblastoma groups in Genoa in January 2007, it was decided to create a joint rhabdoid tumour register.
The aim of the European Rhabdoid Tumour Registry is to collect complete clinical, molecular genetic and therapy-related data on all patients with rhabdoid tumours of the brain (AT/RT), kidneys (RTK - rhabdoid tumour kidney) and soft tissue (MRT - malignant rhabdoid tumour) in Europe.
