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article imageTwo new types of childhood blood cancer detected

By Tim Sandle     Jun 9, 2016 in Science
Lund - Two new types of blood cancer have been detected, by virtue of advances in genetic testing. The discovery may signal the greater use of personalized medicine, applicable to different patients.
The discovery has been made by medical scientists based at the Lund University in Sweden. The discovery came about through the application of next generation sequencing (NGS) platforms.
This concerns determining the precise order of nucleotides within a DNA molecule. While such approaches have been established for a while, the next-generation sequencing element applies to more complex aspects, including: genome sequencing, genome re-sequencing, and transcriptome profiling. The re-sequencing part is necessary since the genome of one person will not indicate all of the genome variations among other individuals. Current technologies can produce millions of sequences concurrently, enabling high-throughput analysis.
Through such processes more has been revealed about a form of childhood cancer called acute lymphoblastic leukemia. This can affect a low number of children between the ages of 2 and 4. The cancer arises through the overproduction of immature white blood cells in the bone marrow.
The disease is treated using a mix of radiation therapy, bone marrow transplantation, and chemotherapy agents. However, the right mix of treatments and the chance of a successful outcome vary according to the cancer type. The new research has indicated why sometimes treatment is successful and why sometimes it is not – this is because of different, and previously unknown, subtypes of the disease.
These subtypes were discovered from sequencing activities of cells taken from 283 children suffering with acute lymphoblastic leukemia. The two new subtypes are both caused by special types of gene mutations, involving genes called DUX4, ETV6 and RUNX1.
On this matter, speaking with Laboratory Roots, lead researcher Professor Thoas Fioretos said: "Like all types of cancer, childhood leukemia is caused by genetic mutations in normal cells, which are then transformed into cancer cells. Finding the critical mutations in the diseased cells is an important condition for understanding the mechanisms of the disease and ultimately discovering new therapies.”
More detail is shown in the following video:
The study has been trending on twitter, with supporting tweets from Rare Diseases and the Kentis Research Group.
The research findings are published in the journal Nature Communications. The research paper is headed “Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.”
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