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JAK2V617F mutation screening in WHO 2008 criteria

An Ipsogen product story
Edited by the Laboratorytalk editorial team Jan 22, 2008

Ipsogen reports recommendation of JAK2V617F mutation screening in World Health Organization 2008 criteria and point-of-care diagnostic algorithms

Ipsogen has reported that the 2008 revision of the WHO document on the classification of chronic myeloproliferative diseases (CMPDs) has incorporated new information on the molecular pathogenesis of BCR - ABL negative myeloproliferative disorders including the screening for JAK2V617F mutation.

In a spotlight review published in the January 2008 issue of the journal Leukemia, Drs Tefferi and Vardiman highlighted the revision in the 2008 WHO diagnostic criteria for Polycythemia Vera (PV), Essential Thrombocytemia (ET) and Primary Myelofibrosis (PMF).

These revisions were notably instigated by the discovery of the JAK2V617F mutation by the team of Dr Vainchenker at the Institut Gustave Roussy, France.

Readily after this discovery, Ipsogen developed and commercially launched a range of JAK2 mutation assays (MutaScreen, MutaQuant) available worldwide to the scientific community.

Clinical studies to support the clinical regulatory status of these products are ongoing.

Concerning PV suspected patients, the association of a JAK2 mutation with nearly all the patients with the disease makes the use of red cell mass measurement to individualise PV from 'secondary' or 'apparent' polycythemia useless.

Peripheral blood JAK2V617F screening is thus the preferred first test for evaluating a patient with suspected PV.

Because JAK2V617F also occurs in approximately 50% of patients with either ET or PMF, the WHO panel proposes to include mutation screening in the diagnostic work-up of both diseases.

These new WHO criteria and the algorithms proposed by Tefferi and Vardiman were published in Leukemia 2008 22: 14-22.

"We are pleased that the WHO, a respected institution promoting, among others, the standardisation of disease classification and diagnostic, has rapidly recognised the breakthrough discovery of Dr Vainchenker that shed light on the pathogenesis of a group of leukemia".

"This recognition is a further encouragement for Ipsogen to offer standardised assays to the clinical community to ensure the most accurate diagnostic to patients and physicians" said Fabienne Hermitte, director R+D and regulatory affairs at Ipsogen.

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