Daniel Lindsay

TL;DR: It was identified that mRNA levels were comparable in tumours with and without p16 protein expression, but other events including DNA promoter hypermethylation, copy number neutral loss of heterozygosity and expression of candidate microRNAs previously implicated in the regulation of CDKN2A expression were not identified to explain the protein loss.

TL;DR: In this article, a DNA methylation-based classifier for the diagnosis of bone and soft tissue neoplasms is presented. But, although a higher tumour purity resulted in a greater likelihood of a prediction being made, it did not correlate with classifier accuracy.

TL;DR: The largest whole genome sequencing (WGS) endeavour involving cancer and rare diseases was initiated in the UK in 2015 and ran for 5 years, with over 70 different sarcoma subtypes described, WGS was a useful tool for refining diagnoses and identifying novel alterations.

TL;DR: It is demonstrated that loss of H3K27me3 expression occurs overall in 38% of MPNSTs, but is lost in 76% of histologically classical cases, whereas loss was detected in only 23% cases with heterologous elements and 14% where the diagnosis could not be provided on morphology alone.