Representative disorders of Philadelphia chromosome-negative myeloproliferative neoplasms—PV, ET, and PMF—are caused by the oncogenesis of hematopoietic stem cells.2 According to the Japanese Society of Hematology, each year some 5,000–6,000 people in Japan suffer from these disorders.
In the tumor classification guidelines (WHO 2017 classifications) formulated by the International Agency for Research on Cancer, the agency of the World Health Organization (WHO) that specializes in cancer, identification of the causative gene mutation is indicated as a key aspect (major criteria) of the diagnostic standard for PV, ET, and PMF. The JAK2V617F mutation is the major gene mutation seen in most PV, ET, and PMF patients. Hence, the mutation is considered to be of major diagnostic importance to patients with these three disorders.
Doctors diagnose JAK2V617F mutations based on a quantitative value of the JAK2V617F mutation ratio (allele burden).3 An in vitro diagnostic (IVD) medical device for diagnosing the JAK2V617F mutation based on international standards that had received Japanese marketing approval, as well as insurance coverage, was long awaited, as none had previously existed.
In response to these medical needs, on January 1, 2020 Sysmex received health insurance coverage for, and commenced sales of, the ipsogen JAK2 DX reagent, an IVD medical device for measuring the allele burden of the JAK2V617F mutation. Now that this IVD medical device has received marketing approval, as well as insurance coverage, Sysmex believes that more people who are suspected of having PV, ET, or PMF will have opportunities to receive appropriate diagnoses based on international standards.
By working to increase testing opportunities for patients and creating high-value testing and diagnosis technologies, going forward Sysmex aims to continue contributing to the development and advancement of personalized medicine.