Quantification of JAK2V617F mutation load by droplet digital PCR can aid in diagnosis of myeloproliferative neoplasms

Introduction This study developed a method for quantifying the JAK2V617F mutation load in patients with myeloproliferative neoplasm (MPN) using droplet digital PCR (ddPCR), which provides a new laboratory method for diagnosing polycythemia vera (PV), essential thrombocythemia (ET), and pre‐primary m...

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Published in:International journal of laboratory hematology 2021-08, Vol.43 (4), p.645-650
Main Authors: Zheng, Chao‐Feng, Zhao, Xiao‐Xue, Chen, Xiu‐Hua, Liu, Zhuang, Wang, Wen‐Jun, Luo, Ming, Ren, Yan, Wang, Hong‐Wei
Format: Article
Language:English
Subjects:
Bone marrow
ddPCR
Diagnosis
JAK2V617F mutation load
Mutation
Myelofibrosis
myeloproliferative neoplasm (MPN)
Polycythemia
Polycythemia vera
pre‐PMF
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Summary:Introduction This study developed a method for quantifying the JAK2V617F mutation load in patients with myeloproliferative neoplasm (MPN) using droplet digital PCR (ddPCR), which provides a new laboratory method for diagnosing polycythemia vera (PV), essential thrombocythemia (ET), and pre‐primary myelofibrosis (pre‐PMF). Methods Patients with MPN who had JAK2V617F mutations from March 2013 to August 2019 were enrolled in this study. JAK2V617F mutation loads were quantified using ddPCR technology. Results The study examined 225 patients, including 135 with ET, 58 with PV, and 32 with PMF. JAK2V617F mutation loads significantly differed (P 
ISSN:1751-5521
1751-553X
DOI:10.1111/ijlh.13560