Scientists have completed one of the longest studies ever carried out on chronic blood cancers, following patients for up to 25 years.
The research, led by the Wellcome Sanger Institute and published in Cancer Discovery, suggests that hidden DNA changes can reveal which patients are likely to remain stable and which may develop more aggressive disease years before symptoms appear.
The findings were also presented at the American Association for Cancer Research Conference.
Myeloproliferative neoplasms, or MPNs, are rare blood cancers that begin in the bone marrow, where blood cells are made.
In these diseases, the body produces too many blood cells. Some people live with the condition for decades with few problems, while others develop serious complications such as myelofibrosis or leukemia.
Most patients carry changes in the JAK2, CALR or MPL genes, but around one in ten do not. This can make diagnosis difficult because doctors sometimes have to rely mainly on examining bone marrow under a microscope. As a result, some people may receive treatment even though their condition may not be a true blood cancer.
The researchers combined whole-genome sequencing with almost 8,000 blood test results and detailed medical records from 30 patients. More than 450 samples collected over many years allowed the scientists to build genetic family trees showing how blood cell populations changed over time.
The study found a clear difference between patients. Those whose disease stayed stable showed very few new DNA changes, while patients whose disease later became more serious accumulated additional mutations. These genetic changes often appeared long before traditional medical tests detected worsening disease.
The team also examined patients without the common MPN mutations. Surprisingly, many of their blood cells showed patterns more consistent with normal aging than cancer. This suggests some people currently diagnosed with rare blood cancers may actually have non-cancerous conditions that require different management.
The findings support newer British guidelines that recommend describing some patients as having unexplained high platelet counts instead of immediately diagnosing blood cancer when no major genetic mutations are found.
Review and analysis: This study demonstrates the value of combining long-term patient care with advanced genome sequencing. Although the research involved a relatively small number of patients, the lengthy follow-up provides unusually strong evidence that genetic monitoring could improve diagnosis, reduce unnecessary treatment, and identify high-risk patients years before disease progression becomes obvious.
If you care about cancer, please read studies that low-carb diet could increase overall cancer risk, and new way to increase the longevity of cancer survivors.
For more health information, please see recent studies about how to fight cancer with these anti-cancer superfoods, and results showing daily vitamin D3 supplementation may reduce cancer death risk.
Source: Wellcome Sanger Institute.
