Research on 100 year old tumours sheds light on the genetic causes of cancer
A collection of century old tumour samples held at Great
Ormond Street Hospital (GOSH) has helped shed light on the genetic
mutations that cause some of the rarest childhood
cancers.
Stored in the GOSH archive are hundreds of case books containing
information collected from surgery and postmortem examinations
going back to when GOSH was founded in 1852. Alongside these many
hand and typewritten records are tumour samples preserved in small
blocks of paraffin wax.
Looking to the past to
research rare diseases
Stored
in the GOSH archive are hundreds of case books containing
information collected from surgery and postmortem examinations
going back to when GOSH was founded in 1852. Alongside these many
hand and typewritten records are tumour samples preserved in small
blocks of paraffin wax.
The lead researcher Professor Neil Sebire,
Consultant Pathologist at GOSH and Reader in Paediatric and
Development Pathology at the UCL Great Ormond Street Institute of
Child Health, said, "When the disease is so rare that even if you
collected every case you'd still only have three or four cases a
year, it might take you 50 years to get enough cases to determine
which mutations are important." Analysing archived samples could
therefore increase the pool of information available on these rare
conditions and help researchers design more targeted treatments for
the most uncommon forms of cancer.
DNA Sampling
The next step was for the researchers to extract the DNA from
the samples and then use powerful modern methods to obtain the
genetic sequence. Together this information enabled researchers to
identify several cancer causing mutations. In one sample of a blood
vessel cancer called haemangioma, the team found a new
mutation which had previously only been seen in leukaemia and
lymphoma.
This work has shown for the first time that it is possible to
obtain genetic information from century old preserved tissue.
Previously the oldest sample that had been sequenced was 32 years
old. Given the lack of available tissue samples for very rare
conditions, the research shows that archived samples are
potentially an untapped resource to could increase the number of
samples available for research. This could pave the way for the
development of more effective treatments for these diseases.
The study was supported by the National Institute of
Health Research GOSH Biomedical Research Centre and carried out in
collaboration with the Wellcome Trust Sanger Institute.
Research at
GOSH
The study was supported by the National Institute of Health
Research GOSH Biomedical Research Centre and carried out in
collaboration with the Wellcome Trust Sanger Institute.