Genetic analysis is standard for investigating the cause of leukemia and for deriving the optimal treatment strategy for diseases also known as blood cancer. A research team from Bochum and Essen has examined a new methodology that offers more accuracy. The so-called optical genome mapping produced more precise information on the genetic basis of the disease in two thirds of all cases examined. The team led by Prof. Dr. Huu Phuc Nguyen, chair of human genetics at the Ruhr University Bochum (RUB), and Prof. Dr. Roland Schroers, head of the hematology, oncology, stem cell / immunotherapy department at the Knappschaftskrankenhaus University Hospital, reports in the International Journal of Cancer.
Laser lights up molecules
For optical genome mapping, very long molecules of the human genome are obtained, for example, from routinely taken blood samples or bone marrow material from patients. These long DNA molecules are marked with luminous dye molecules at over half a million different positions of the entire human genome and passed through very thin nanocannels on a special chip. As the DNA molecules move through the nanocannels, they are made to glow with a laser and photographed using a microscope. The images of the entire genome are then analyzed bioinformatically. "The aim is to find and evaluate changes in regions that are important for the development of cancer," explains Dr. Wanda Gerding from Bochum's human genetics.
Optical genome mapping thus offers the possibility of examining known regions that are important for the classification and therapy of leukemia with just one methodology. It also allows new relevant genomic areas and new genes to be identified.
Reliable and expanded results
In the current study, the team examined the new method compared to the current standard diagnostics in patients with acute myeloid leukemia and myelodysplastic syndromes. The researchers were able to show that the new method corresponds in 93 percent of the samples examined with the results from a classic examination, the so-called cytogenetic karyogram of the bearer of the genetic material. Extended total genomic information could even be derived in 67 percent of the samples.
The new method can therefore not only demonstrate structural changes in the genome more precisely, but also has the potential to become an important component of routine diagnostics for patients with leukemia. "As a further plus, genome research can provide data and new findings for further research in the field of tumor biology," says Wanda Gerding.
The human genetics department of the RUB, headed by Prof. Dr. Huu Phuc Nguyen with hematology, oncology, stem cell and immunotherapy of the Bochum Knappschaftskrankenhaus under the direction of Prof. Dr. Roland Schroers, belonging to the Center for Hematooncological Diseases (ZHOE) of the RUB, and Prof. Dr. Peter Reimer from hematology, internist oncology and stem cell transplantation of the Evangelical Clinics Essen-Mitte. The close scientific cooperation between the two specialist departments was carried out by Dr. Deepak Vangala, Dr. Wanda Gerding, Dr. Verena Nilius-Eliliwi (funded by the "Female Clinical Scientist" program of the medical faculty of the RUB) and doctoral students Marco Tembrink (human genetics, with funding for doctoral thesis as part of the structured doctoral program (FoRUM RUB)). The RUB Medical Faculty's Ethics Committee gave a positive vote for the project (no. 20-7063).
Source/Credit: Ruhr University Bochum