Malignant rhabdoid tumour

Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms' tumour, which is primarily a kidney tumour that occurs mainly in children. Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms' tumour, which is primarily a kidney tumour that occurs mainly in children. MRT was first described as a variant of Wilms' tumour of the kidney in 1978. MRTs are a rare and highly malignant childhood neoplasm. Rhabdoid tumours outside the kidney were later reported in many tissues including the liver, soft tissue, and the central nervous system. Several cases of primary intracranial MRT have been reported since its recognition as a separate entity in 1978. The term rhabdoid was used due to its similarity with rhabdomyosarcoma under the light microscope. The exact pathogenesis of MRT is unknown. The cerebellum is the most common location for primary intracerebral MRT (i.e., atypical teratoid rhabdoid tumor). Biggs et al. were first to report a primary intracranial MRT around 1987. Although the cell of origin is not known, cytogenetic studies have suggested a common genetic basis for rhabdoid tumours regardless of location with abnormalities in chromosome 22 commonly occurring. There have been reported cases of a child having both atypical teratoid rhabdoid tumours in the brain as well as rhabdoid tumours of the kidney. Weeks and associates reported on 111 renal rhabdoid cases of which 13.5% also had a central nervous system malignancy. It has been hypothesized that a germline INI mutation may predispose a child to these tumours. There have been some references in the literature alluding to a new diagnosis called rhabdoid predisposition syndrome related to the gene hSNF5/INI1.