Cardiovascular-related death in infancy and childhood: a clinicopathological study of two referral institutions in England.

To review post-mortem findings among deaths presenting as sudden and/or unexpected deaths in two centers in the UK during a 16-year period in order to identify those related to cardiovascular conditions. The post-mortem databases of two tertiary referral institutions were searched, and all reports were reviewed. Histological features and results of ancillary investigations were noted.

Systemic adjuvant chemotherapy for advanced malignant ocular medulloepithelioma.

Background: Ocular medulloepithelioma (diktyoma) is a rare and potentially malignant paediatric tumour of the non-pigmented ciliary epithelium. Adjuvant chemotherapy can be given in advanced cases, but the indications and regimens remain to be defined. The aim was to identify whether adjuvant chemotherapy offers treatment benefit in advanced ocular medulloepithelioma.

amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification.

Retinoblastoma (Rb) is a childhood tumor of the developing retina where predisposition is caused by pathogenic variants. amplification () has been implicated in around 2% of sporadic unilateral Rb tumors with no detectable variants. We audited data from tumors collected between 1993 and 2019 to determine if this is the case for patients treated at Barts Health NHS Trust, and how often it occurred alongside variants.

Whole-Genome Sequencing of Retinoblastoma Reveals the Diversity of Rearrangements Disrupting and Uncovers a Treatment-Related Mutational Signature.

The development of retinoblastoma is thought to require pathological genetic changes in both alleles of the gene. However, cases exist where mutations are undetectable, suggesting alternative pathways to malignancy. We used whole-genome sequencing (WGS) and transcriptomics to investigate the landscape of sporadic retinoblastomas derived from twenty patients, sought and other driver mutations and investigated mutational signatures.