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

摘要: Extracranial rhabdoid tumours (ECRT) are an aggressive malignancy of infancy and early childhood. The vast majority cases demonstrate inactivation SMARCB1 (ECRTSMARCB1 ) on a background remarkably stable genome, low mutational burden, no other recurrent mutations. Rarely, ECRT can harbour the alternative SMARCA4 (ECRTSMARCA4 instead SMARCB1. However, very few ECRTSMARCA4 have been published to date, systematic characterization is missing from literature. In this study, we report clinical, pathological, genomic features additional , show that they comparable those ECRTSMARCB1. We also assess whether ECRTSMARCB1 small cell carcinomas ovary, hypercalcaemic type (SCCOHT) represent distinct or overlapping entities at molecular level. Using DNA methylation transcriptomics-based tumour classification approaches, display intermediate between SCCOHT ; however, appear be more closely related by methylation. Conversely, both transcriptomics larger gap potentially supporting their continuous separate classification. Lastly, concomitant lack (BRG1) SMARCA2 (BRM) expression protein level, similar what seen in SCCOHT. Overall, our results expand knowledge rare explore similarities differences among 'rhabdoid tumour' spectrum. This article protected copyright. All rights reserved.