Clinical features and next-generation sequencing landscape of essential thrombocythemia, prefibrotic primary myelofibrosis, and overt fibrotic primary myelofibrosis: a Chinese monocentric retrospective study

Zhang, Lan; Ye, Xingnong; Luo, Shuna; Xu, Xiaofei; Wang, Shengjie; Jin, Kan; Zheng, Yan; Zhu, Xiaoqiong; Chen, Dan; Jin, Jie; Huang, Jian

doi:10.1007/s00432-022-04067-1

Cited by 2 publications

(1 citation statement)

References 36 publications

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“…In our study, we found an obvious differences between JAK2V617F mutations burden and WT1 expression within three subtypes of MPN. Both our studies and previous researches revealed that JAK2V617F allele burden 27,28 and WT1 expression 29 will gradually increase with the progress of MPN. It is reported that JAK2V617F mutations mainly occurred in MPN patients and a small part of AML patients 8 and elevated expression of WT1 often imply patients to have malignant tumor.…”

Section: Discussionsupporting

confidence: 74%

The Combination of JAK2V617F Allele Burden and WT1 Expression can Be Helpful in Distinguishing the Subtype of MPN Patients

Luo

Rouzi

et al. 2023

Cancer Control

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Introduction Classical Philadelphia-negative myeloproliferative neoplasm (MPN) includes Essential Thrombocythemia (ET), Polycythemia Vera (PV) and Primary Myelofibrosis (PMF). The JAK2V617F mutation is part of the major criteria for diagnosis of MPN. WT1 is reported to be highly overexpressed in most hematological malignancy. Our aim was to explore the combination value of JAK2V617F allele burden and WT1 expression in distinguishing the subtype of MPN patients. Methods Allele specific real-time quantitative fluorescence PCR (AS-qPCR) was conducted to detect JAK2V617F allele burden. WT1 expression was assessed by RQ-PCR. Our study is a retrospective study. Results JAK2V617F allele burden and WT1 expression were different in MPN subgroups. The expression of WT1 in PMF and PV is higher than in ET. JAK2V617F allele burden in PMF and PV is also higher than in ET. ROC analysis indicated that combination of JAK2V617F allele burden and WT1 expression to discriminate ET and PV, ET and PMF, PV and PMF is 0.956, 0.871, 0.737 respectively. Furthermore, their ability to distinguish ET patients with high Hb levels from PV patients with high platelet counts is 0.891. Conclusions Our data revealed that combination of JAK2V617F allele burden and WT1 expression is useful in distinguishing the subtype of MPN patients.

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