Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour

Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour

Wilms tumour (WT) is an embryonal kidney neoplasia for which very few driver genes have been identified. Here we identify DROSHA mutations in 12% of WT samples (26/222) using whole-exome sequencing and targeted sequencing of 10 microRNA (miRNA)-processing genes. A recurrent mutation (E1147K) affecting a metal-binding residue of the RNase IIIb domain is detected in 81% of the DROSHA-mutated tumo...

Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumors

Wilms tumour is the most common childhood kidney cancer. Here we report the whole-exome sequencing of 44 Wilms tumours, identifying missense mutations in the microRNA (miRNA)-processing enzymes DROSHA and DICER1, and novel mutations in MYCN, SMARCA4 and ARID1A. Examination of tumour miRNA expression, in vitro processing assays and genomic editing in human cells demonstrates that DICER1 and DROS...

Publisher Correction: Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours

Recurrent Wilms tumour presenting as bilateral pneumothoraces.

We report the case of a 14-year-old girl who presented with bilateral pneumothoraces secondary to recurrent Wilms' tumour, 10 years following the initial treatment of her tumour. Recurrent Wilms' tumour presenting as bilateral pneumothorax so long after the original diagnosis has not previously been reported.

Drosha in primary microRNA processing.

MicroRNA (miRNA)-mediated gene silencing is one of the major regulatory pathways in eukaryotes. Much effort has been made to identify the factors involved in the pathway, and our understanding of RNA silencing has significantly advanced in recent years. Our group has been working on some of the issues regarding miRNA biogenesis and, in this paper, we summarize what we and other workers in the f...