Does increasing the JAK2V617F assay sensitivity allow to identify more patients with MPN?

E Kouroupi,M-L Menot,C Chomienne,L Ades,C Dosquet,B Cassinat,J-J Kiladjian,W Vainchenker,N Bonnin

doi:10.1038/bcj.2012.15

E Kouroupi, M-L Menot + Show 7 more

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https://doi.org/10.1038/bcj.2012.15

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Abstract

Does increasing the JAK2V617F assay sensitivity allow to identify more patients with MPN?

Highlights

The detection of the JAK2V617F mutation has become an essential tool in BCR-ABL1-negative myeloproliferative neoplasms (MPNs) diagnosis, as it is present in 95% of polycythemia vera (PV) patients and 60% of essential thrombocytemia (ET) or myelofibrosis patients.[1]
JAK2V617F-positive MPNs are different from other hematological malignant disease in that, the JAK2V617F mutation is considered as the causative origin of the disease, the tumor burden at the time of diagnosis as assessed by the % of JAK2V617F alleles in peripheral blood or bone marrow can vary from 100% to very low levels with no correlation to blood cell counts
In patients with low allele burden of JAK2V617F mutation, JAK2 exon 12 mutations have been tested in patients with PV, whereas MPL515 mutations have been tested in patients with either ET or myelofibrosis

Summary

Introduction

The detection of the JAK2V617F mutation has become an essential tool in BCR-ABL1-negative myeloproliferative neoplasms (MPNs) diagnosis, as it is present in 95% of polycythemia vera (PV) patients and 60% of essential thrombocytemia (ET) or myelofibrosis patients.[1]. The detection of the JAK2V617F mutation has become an essential tool in BCR-ABL1-negative myeloproliferative neoplasms (MPNs) diagnosis, as it is present in 95% of polycythemia vera (PV) patients and 60% of essential thrombocytemia (ET) or myelofibrosis patients.[1] JAK2V617F-positive MPNs are different from other hematological malignant disease in that, the JAK2V617F mutation is considered as the causative origin of the disease, the tumor burden at the time of diagnosis as assessed by the % of JAK2V617F alleles in peripheral blood or bone marrow can vary from 100% to very low levels with no correlation to blood cell counts.

Results

Conclusion