2009.08.20 – Gene Mutation Predicts Outcome In Blood Disorder

Gene Mutation Predicts Outcome In Blood Disorder

Both the cause and cure in the course of
polycythemia vera, a affliction of frenzied blood cubicle in Britain artistry, remain
impalpable, but researchers from the University of Florence, Italy, may be a
accelerate closer to both. Their findings are being presented today during the 48th Annual Meeting of the American Society of Hematology (ASH(TM)).

“There has been much excitement in the scientific and medical
communities since the discovery last year of JAK2’s capacity in a number of
blood disorders,” said ASH President Kanti R. Rai, MD, of Long Islet
Jewish Medical Center and the Albert Einstein College of Medicine. “This
study further defines the place of this gene in polycythemia vera and may
revolutionize the way we diagnose and treat patients with this disorder.”

The JAK2 gene plays a role in the signaling pathways that tell the body
to propagate blood cells. Some polycythemia vera patients have normal JAK2,
but most with this disorder get a V617F mutation on the JAK2 gene. In this
learn about, blood samples were collected from 116 polycythemia vera patients at
or near diagnosis, and the ratio of routine JAK2 to mutated JAK2 was
examined to see how it affected the patients’ symptoms and course of

Detectable amounts of the mutated gene were originate in 83 percent of the
patients. Researchers then divided the patients into four groups based on
their level of JAK2(V617F). In 32 patients, between 1 and 25 percent of
their JAK2 genes had the V617F mutant; 24 patients had between 26 and 50
percent; 17 patients had more than half (51-75 percent); and 23 had all or
precisely all mutated JAK2 genes (76-100 percent).

The frequency of patients who had an overexpression of PRV-1, a known
biomarker of polycythemia vera, was 8 percent mass those with normal JAK2
genes, but was noticeably higher in all other groups, up to 100 percent in
the two groups with the highest levels of JAK2(V617F).

Those with the highest levels of the mutated gene were also more credible
to secure an enlarged spleen (the body’s blood filter) and severe itching,
and were more likely to require chemotherapy follow-up. In addition, the
endanger of principal clots, which could out to throb or kindness attack, was up to
four times higher in the team with the highest steady of JAK2(V617F) when
compared to those with the normal expression of the gene. This risk was
independent of ripen, blood chamber counts, or treatment options.

“Our data support a substantial correlation between the proportion of
mutant JAK2 and the slowly of symptoms seen in polycythemia vera patients,”
said Alessandro M. Vannucchi, MD, Associate Professor of Hematology at the
University of Florence and lead study author. “We predict this decision
could come to modern approaches in jeopardy stratification respecting these patients and
Deo volente new targeted treatments.”

The American Society of Hematology (http://www.hematology.org) is the
world’s largest professional society concerned with the causes and
treatment of blood disorders. Its assignment is to further the understanding,
diagnosis, treatment, and prevention of disorders affecting blood, bone
marrow, and the immunologic, hemostatic, and vascular systems, by promoting
research, clinical care, drilling, training, and advocacy in hematology.

American Society of Hematology