Molecular diagnoses of century-old childhood tumours reveals cancer causing mutations

A collection of 100-year old tumour samples held at Great Ormond Street Hospital (GOSH) has helped pinpoint the genetic mutations that cause some of the rarest childhood cancers.

NIHR Great Ormond Street BRC-theme lead Professor Neil Sebire worked with colleagues at the Wellcome Trust Sanger Institute to sequence DNA from tumour samples that had been preserved in blocks of paraffin wax since the 1920s. The team then cross-referenced the samples with archived patient case books which contain information about the patient’s symptoms, condition and diagnosis. Together this information enabled researchers to identify several cancer causing mutations. In one case of the blood vessel cancer (cellular capillary haemangioma) researchers found a mutation in the ASXL1 gene which had not previously been seen in solid tumours.

This proof of principle study shows that it is possible to obtain genetic information from preserved tissue. It also demonstrates the potential of this approach in understanding the genetic basis of rare childhood cancers where the very low incidences mean contemporary tissue samples are scarce

The research was published in a letter to Lancet Oncology  and featured on Radio 4's Inside Science, The Guardian and Nature News.