SMARCA4 ‐deficient rhabdoid tumours show intermediate molecular features between SMARCB1 ‐deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type

Abstract excerpt

Abstract Extracranial rhabdoid tumours (ECRTs) are an aggressive malignancy of infancy and early childhood. The vast majority of cases demonstrate inactivation of SMARCB1 (ECRT SMARCB1 ) on a background of a remarkably stable genome, a low mutational burden, and no other recurrent mutations. Rarely, ECRTs can harbour the alternative inactivation of SMARCA4 (ECRT SMARCA4 ) instead of SMARCB1. However, very few...

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