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

INTRODUCTION

Classical Philadelphia-negative myeloproliferative neoplasm (MPN) includes Essential Thrombocythemia (ET), Polycythemia Vera (PV) and Primary Myelofibrosis (PMF). The mutation is part of the major criteria for diagnosis of MPN. is reported to be highly overexpressed in most hematological malignancy. Our aim was to explore the combination value of allele burden and expression in distinguishing the subtype of MPN patients.

METHODS

Allele specific real-time quantitative fluorescence PCR (AS-qPCR) was conducted to detect allele burden. expression was assessed by RQ-PCR. Our study is a retrospective study.

RESULTS

allele burden and expression were different in MPN subgroups. The expression of in PMF and PV is higher than in ET. allele burden in PMF and PV is also higher than in ET. ROC analysis indicated that combination of allele burden and 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 allele burden and expression is useful in distinguishing the subtype of MPN patients.