等位基因负担与表达的联合检测有助于鉴别骨髓增殖性肿瘤患者的亚型。
The Combination of Allele Burden and Expression can Be Helpful in Distinguishing the Subtype of MPN Patients.
机构信息
Department of Hematology, 89674Zhongnan Hospital of Wuhan University, Wuhan, China.
Department of Immunology, College of Basic Medicine, 12550Chongqing Medical University, Chongqing, China.
出版信息
Cancer Control. 2023 Jan-Dec;30:10732748231163648. doi: 10.1177/10732748231163648.
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.
简介
经典费城阴性骨髓增殖性肿瘤（MPN）包括原发性血小板增多症（ET）、真性红细胞增多症（PV）和原发性骨髓纤维化（PMF）。突变是 MPN 诊断的主要标准之一。在大多数血液恶性肿瘤中，被报道高度过表达。我们的目的是探讨等位基因负担和表达的联合价值，以区分 MPN 患者的亚型。
方法
采用等位基因特异性实时荧光定量 PCR（AS-qPCR）检测等位基因负担。通过 RQ-PCR 评估表达。我们的研究是一项回顾性研究。
结果
MPN 亚组中的等位基因负担和表达不同。PMF 和 PV 中的表达高于 ET。PMF 和 PV 中的等位基因负担也高于 ET。ROC 分析表明，等位基因负担和表达的联合用于区分 ET 和 PV、ET 和 PMF、PV 和 PMF 的能力分别为 0.956、0.871、0.737。此外，它们区分 ET 患者中高 Hb 水平与 PV 患者中高血小板计数的能力为 0.891。
结论
我们的数据表明，等位基因负担和表达的联合可用于区分 MPN 患者的亚型。
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