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Harvard Scientists Find New Way to Predict Risk of Blood Cancer Long Before It Strikes

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The Leukemia Research Foundation says that one person gets diagnosed of blood cancer every four minutes, but there could be hope for early detection and even prevention now that researchers were able to find a way to determine the person's risks for the deadly disease.

Two groups of researchers have found that some individuals have markers in their blood that indicate an increased risk for developing blood cancers such as myelodysplastic syndrome, leukemia and lymphoma. The indicator is known as somatic mutations, which are not present at birth but develop as a person grows old.

The researchers discovered that individuals whose DNA blood samples have the mutation had five percent increased odds of developing blood cancer within five years after testing and the mutation is believed to originate in the blood stem cells that produce mutated cells. The mutated cells in turn reproduce at a very fast rate until they make up a large percentage of a person's blood cells.

"Cancer is the end-stage of the process," said Siddhartha Jaiswal, from Massachusetts General Hospital and co-author of the first study 'Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes,' which was published in the New England Journal of Medicine (NEJM) on Nov. 26.

"By the time a cancer has become clinically detectable it has accumulated several mutations that have evolved over many years. What we are primarily detecting here is an early, pre-malignant stage in which the cells have acquired just one initiating mutation."

For their study, Jaiswal and colleagues looked at 160 genes that are persistently mutated in malignancies in the blood and found that the presence of somatic mutations increases a person's chance of developing cancer. They likewise observed that the mutation is associated with increased risks for other diseases such as type 2 diabetes, ischemic stroke and heart disease albeit this still requires further research.

In another study, Steven McCarroll, from Harvard Medical School and colleagues, were conducting a study on another disease. They were initially analyzing whether or not somatic mutations can influence risks for schizophrenia but eventually discovered that the mutations were concentrated in cancer genes. By tracking the medical histories of their subjects, the researchers found that those who have the mutation had 13 times increased risks for blood cancer.

"A subset of the genes that are mutated in patients with myeloid cancers is frequently mutated in apparently healthy persons; these mutations may represent characteristic early events in the development of hematologic cancers," McCarroll and colleagues wrote in their study published in NEJM on Nov. 26.

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