On January 6, 2020 Sysmex Corporation (HQ: Kobe, Japan; Chairman & CEO: Hisashi Ietsugu) reported its launch of the ipsogen JAK2 DX reagent (Press release, Sysmex, JAN 6, 2020, View Source [SID1234552701]). The company received marketing approval on the reagent on December 19, 2018. This product is a gene testing kit that measures the JAK2V617F mutation1 quantitatively, used in the diagnosis of certain hematopoietic tumors generally referred to as blood cancers, specifically polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).

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This product obtained health insurance coverage effective January 1, 2020, becoming Japan’s first diagnostic aid for PV, ET, and PMF to be covered. Going forward, tests using the reagent will be covered under health insurance. This is expected to increase the opportunities for more patients to receive testing.

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.
Product Overview
Generic name: JAK2 gene mutation kit
Name: ipsogen JAK2 DX reagent
(in vitro diagnostic medical device registration number: 23000EZX00061000)
Target market: Japan
Manufacture and sale: Sysmex Corporation
Details of Insurance Coverage
Item of measurement: JAK2 gene test
Measurement method: Allele-specific quantitative PCR (AS-qPCR) method
Objective of use: To measure the percentage of JAK2V617F mutations in genome DNA extracted from blood components (diagnostic aid for polycythemia vera, essential thrombocythemia and primary myelofibrosis)
NHI points: 2,504
Terminology
1 JAK2V617F mutation:
JAK2 refers to the tyrosine kinase JAK2 protein, which transduces the signals for regulating the growth and differentiation of blood cells. JAK2V617F indicates a mutation in which an amino acid (valine) at position 617 of JAK2 protein is replaced by phenylalanine.

2 Oncogenesis of hematopoietic stem cells:
Blood cells (red blood cells, white blood cells, and platelets) are differentiated from hematopoietic stem cells in the bone marrow. Gene mutations in these hematopoietic stem cells leads to oncogenesis, causing a rapid increase of the blood cells.

3 Allele burden:
A quantitative expression of the degree of the JAK2V617F mutation.