No small surprise – small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour

摘要: Whole-exome sequencing (WES) is revolutionizing medical diagnostics and taxonomy. In less than 5 years since its first use, WES has revealed unexpected molecular drivers of numerous cancers. Here, we describe our use to uncover the true nature an enigmatic pathological entity, small-cell carcinoma ovary, hypercalcaemic type (SCCOHT), which resisted definitive characterisation it was described in 1979. We conducted using three families with SCCOHT identified deleterious mutations chromatin-remodelling gene SMARCA4 (encoding BRG1) all cases. Follow-up these findings, both Sanger formalin-fixed paraffin-embedded tumours, showed that virtually SCCOHTs studied lacked functional SMARCA4/BRG1. Notably, this gene, related SMARCB1 mutated most, if not all, atypical teratoid/rhabdoid tumours malignant rhabdoid tumours. Other groups have similar findings. review relationship between neoplasms, discuss how they were distinguished from morphologically consider their similarities show are fact propose be renamed 'malignant tumour ovary' (MRTO) reflect observations.