JAK2 V617F

The mutation affecting the Janus Tyrosine Kinase 2 (JAK2 V617F) was identified by the INSERM team of Dr. Vainchenker in 2005.

This somatic mutation was found to be the most common molecular abnormality in chronic Myeloproliferative Disorders (MPD).

In 2006, IPSOGEN entered in a partnership with the academic co-owners of the JAK2 V617F portfolio.
The JAK2 mutation test has been recommended for the early diagnosis or elimination of these types of leukaemia since January 2008 by the World Health Organisation (WHO).

JAK2 status assessment is now a standard early diagnostic test in all laboratories dealing with chronic Myeloproliferative Disorders.

LNK gene

Dysregulated JAK-STAT signaling due to activation of tyrosine kinases is a common feature of myeloproliferative neoplasms (MPNs).

The lymphocyte-specific adaptor protein (LNK) is a negative regulator of the JAK-STAT signaling pathway, and its disruption could represent an alternative mechanism to JAK2 or MPL mutations in the pathobiology of MPN.

IPSOGEN announced in January 2011 the signature of an agreement with Stanford University for the worldwide license on genomic mutations in the LNK gene and has included this diagnostic in its development pipeline.

BCR-ABL

The BCR-ABL fusion gene is associated with formation of the Philadelphia chromosome (Ph) and is one of the most common genetic abnormalities detected in leukemia.

The Ph chromosome is found in more than 95% of Chronic Myeloid Leukemia (CML) cases and is the hallmark of this disease. In addition, in Acute Lymphoblastic Leukemia (ALL), Ph is detected in 20-40% of adult and 2-5% of childhood cases.

In 2003, IPSOGEN entered in partnership with Université de la Méditerranée in order to exploit patented calibration technologies and primers and probes optimization for the assessment of this marker and several others in the field of leukemias.

More recently, IPSOGEN developed in collaboration with leading academic centers a fully WHO standardized version of its BCR-ABL kit (IS-MMR) in order to provide better sensitivity, accuracy and precision and hence a better disease management tool for treated Chronic Myeloid Leukemia patients.