Hematology Unit, Department of Clinical Pathology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Clinical Hematology Unit, Oncology Center Mansoura University, Faculty of Medicine, Mansoura, Egypt.
Asian Pac J Cancer Prev. 2021 Apr 1;22(4):1195-1201. doi: 10.31557/APJCP.2021.22.4.1195.
Philadelphia-negative myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET) and myelofibrosis are clonal haematopoietic stem cell disorders characterized by dysregulated proliferation. The arterial and venous thromboses are the major causes of morbidity and mortality in MPNs. The platelet GP Ib-IX-V receptor complex plays an important role in thrombus formation as the Kozak sequence polymorphism of platelet GP Ibα is associated with increased receptor density.
This study was conducted on 286 diagnosed patients with Ph-negative MPNs (94 patients of PV, 102 of ET and 90 of MF). In addition, 107 apparently healthy individuals served as a control group.
This study revealed that by taking rs2243093 TT as the reference genotype and T as the reference allele; TC, CC, TC+CC genotypes showed lower frequency in ET patients (p= 0.005, 0.007 and 0.001 respectively) and MF patients (p= 0.002, 0.047 and 0.001 respectively) when compared to control groups also, C allele in both groups compared to control (p ≤ 0.001 both). CC genotypes and C allele showed lower frequency in PV patients when compared to control groups (p= 0.032 and 0.026 respectively).
From this study we could conclude that patients with Philadelphia-negative MPNs carried Kozak gene polymorphism significantly TT genotype in all patients PV, ET, MF patients and TC in ET and MF patients. The platelet glycoprotein Ibα (Kozak) gene could be incorporated into the routine workup to predict venous thrombosis in patients with Ph-negative MPNs specially ET patients.
费城阴性骨髓增殖性肿瘤（MPN）包括真性红细胞增多症（PV）、特发性血小板增多症（ET）和骨髓纤维化，是一种克隆性造血干细胞疾病，其特征是增殖失调。动脉和静脉血栓形成是 MPN 发病和死亡的主要原因。血小板 GP Ib-IX-V 受体复合物在血栓形成中起重要作用，因为血小板 GP Ibα 的 Kozak 序列多态性与受体密度增加有关。
本研究共纳入 286 例诊断为 Ph 阴性 MPN 的患者（94 例 PV、102 例 ET 和 90 例 MF），另外 107 例健康个体作为对照组。
本研究表明，以 rs2243093 TT 为参考基因型，T 为参考等位基因；TC、CC 基因型在 ET 患者（p=0.005、0.007 和 0.001）和 MF 患者（p=0.002、0.047 和 0.001）中的频率较低，与对照组相比，C 等位基因在两组中均较低（p≤0.001）。与对照组相比，CC 基因型和 C 等位基因在 PV 患者中频率较低（p=0.032 和 0.026）。
从本研究中我们可以得出结论，所有 PV、ET 和 MF 患者的 Koza 基因多态性均为 TT 基因型，ET 和 MF 患者的 TC 基因型，血小板糖蛋白 Ibα（Kozak）基因可纳入常规检查，以预测 Ph 阴性 MPN 患者，特别是 ET 患者的静脉血栓形成。
