In the archives of the Great Ormond Street Hospital for Children in London, UK, reside the patient records that cancer researcher Sam Behjati hopes will serve the patients of the future. And it is that the team of scientists led by Behjati has published the DNA sequencing of three hundred-year-old human genome samples collected in these same facilities almost a century ago (the hospital has records from 165 years ago). These samples could advance research on rare or rare childhood cancers.
Those historic cells will help solve a modern problem: the meager number of rare cancer tumor samples available for researchers to work with. And Behjati knows this problem well, because at the Wellcome Trust Sanger Institute in Hinxton (UK), she tracks the genetic errors that can lead to rare childhood cancers and the frustration at the paucity of evidence supporting much of her practice is habitual.
The work highlights the wealth of material available in the hospital archives, as this wide range of samples can expand the options to study rare diseases and little-studied ethnic populations and carry out large population-scale studies, explains Danielle Carrick, program director at the United States National Cancer Institute in Rockville, Maryland.
Behjati hopes to be able to trace the genomic connection defect that causes the development of rare carcinomas in children . With so few patients it is almost impossible to carry out reasonable clinical trials, hence this historical sequencing is so relevant.
We already know that DNA tends to degrade over time and oncologists cannot use any type of sample in order to identify the genetic mutations of each individual susceptible to tumor growth: they must be high quality samples . But, fortunately, the tests arrived in a small cardboard box filled with tubes of paraffin wax have served to collect three samples – enough – to be sequenced and to discover evidence of mutations associated with cancer.
The three samples have been: a muscle cancer called rhabdomyosarcoma, a tumor of the blood vessels called a cellular capillary hemangioma and a lymphoma. After confirming the original diagnoses, the scientists extracted DNA from much of the remaining sample and sequenced 366 genes in each. They found cancer-associated mutations in all three samples.
The study has been published in the journal Nature.
