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Single Test May Spot Blood Cancers

Genetic Mutation Linked to a Range of Blood Disorders
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March 17, 2005 -- A single test may soon be able to detect a group of blood cancers, known as myeloproliferative disorders, according to new research.

The study showed that the same genetic mutation was present in more than 50% of people with one of the three main types of myeloproliferative disorders. These blood cancers cause an overproduction of red blood cells and platelets, which form blot clots. The main complications from these are blood clots, hemorrhage (abnormal bleeding), or bone marrow scarring and the development of leukemia.

Researchers say the lack of a definitive diagnostic test for myeloproliferative disorders can make managing the conditions difficult, as they are often misdiagnosed as a normal reaction in the blood to increase cells.

New Test for Blood Disorders May Be on the Way

In the study, which appears in the March 19 issue of The Lancet, researchers analyzed the gene JAK2, a growth factor linked to many blood cancers. Researchers looked for the gene in 140 people with one of the three major types of myeloproliferative disorders, including polycythaemia vera,polycythaemia vera,essential thrombocythaemia,essential thrombocythaemia, and idiopathic myelofibrosis.idiopathic myelofibrosis.

Researchers took DNA samples from the patients as well as a comparison group of people without the blood disorders.

A single mutation was found in the JAK2 gene in 97% of the 73 people with polycythaemia vera, 57% of the 51 with essential thrombocythaemia, and 50% of the 16 with idiopathic myelofibrosis.

This mutation was not found in any people in the comparison group.

"We have shown that a single acquired point mutation in JAK2 is present in virtually all patients with polycythaemia vera and in about half of those with either essential thrombocythaemia or idiopathic myelofibrosis," says researcher Tony Green of the Cambridge Institute for Medical Research in the U.K., in a news release.

By having a single genetic mutation to look for, researchers say it may be possible in the near future to develop blood tests to screen for the mutation and help diagnose myeloproliferative disorders.

Green says these results will have important implications for the classification, diagnosis, and treatment of the myeloproliferative disorders and provide insight into how they develop.

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