Researchers from the Institute Dana-Farber Cancer conducted the largest genomic analysis of patients with indolent myeloma, a precursor of cancer of the blood in which no outward symptoms. "The project of the next generation sequencing will help to explain the biology of disease and the development of asymptomatic to symptomatic stage", - says Mark Bustoros, Laboratory of Irene Gobrial.
"The research will help to understand which patients with myeloma are at high risk of disease progression. In the end, we will focus on the early stages, while cancer cells do not spread in the body and do not cause serious damage to the body, "- adds Bustoros, presented the study results at the Annual Meeting and Exhibition of the 59th American Society of Hematology in Atlanta.
Scientists have sequenced 186 bone marrow biopsies of patients with myeloma, some of which were observed progression to multiple myeloma . They then compared the genomic data with standard progression risk analysis according to current clinical biomarkers.
"We found that mutations are more common in patients with myeloma with high risk, - says Bustoros. - We have found that certain mutations, which are the conditions of cancer progression in this group were more common. " Many mutations occurred among genes in molecular pathways MAPK and NF-kB and showed a greater risk of progression to symptomatic disease.
In addition to the analysis of bone marrow biopsies, the researchers sequenced 20 samples of cell-free DNA in the blood of people with myeloma. "Bone marrow biopsies are painful and inconvenient as diagnostic tools, so a few years ago had the idea of blood biopsies," - says Bustoros.
The study showed that the blood fraction of tumor DNA were higher in patients with high-risk myeloma. Ultimately, the researchers hope to develop methods of using the sequencing of extracellular DNA for the monitoring of patients with myeloma and its predecessors, monoclonal gammopathy of unknown origin.
Test samples were prepared in preventing cancer progression Blood Center, Dana Farber that gathered tissues and blood samples from more than 1000 patients.
Currently, researchers are conducting sequencing of dozens of additional samples, including from cancer centers around the country and the world to find patterns that cover different aspects of progression of myeloma.
After the end of the study, researchers will integrate the genomic and clinical data and try to build a model to determine patients at high risk of disease progression, which will be applied in practice.