Background

Genetic mutations have been proven to be one of the major criteria in the diagnosis and distinction of different myeloproliferative neoplasm (MPN) subtypes. Therefore, the aim of this study was to determine the molecular profile of Egyptian patients with MPN subtypes and correlate with clinicopathological status.

Methods

A series of 200 patients with MPNs (92 polycythemia vera, 68 essential thrombocythemia, and 40 primary myelofibrosis) were included in this study. DNA from each sample was amplified using polymerase chain reaction to detect Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations. Sanger sequencing was used to determine the mutation types.

Results

Of the 200 samples, 44% had JAK2V617F and 10% were carrying CALR mutation with type 2 being the most frequent type in this study (55%). No MPL or JAK2 exon 12 mutations were detected. All clinical and hematological data had no differences with other populations except that our CALR-positive patients showed a decrease in the platelet count compared with JAK2V617F-positive patients.

Conclusion

Our study on Egyptian patients shows a specific molecular profile of JAK2 mutation, and CALR mutation type 2 was higher than type 1.

中文翻译：

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JAK2、CALR 和 MPL 突变在埃及典型的费城阴性骨髓增生性肿瘤患者中。

背景

基因突变已被证明是诊断和区分不同骨髓增殖性肿瘤（MPN）亚型的主要标准之一。因此，本研究的目的是确定埃及 MPN 亚型患者的分子特征并与临床病理状态相关联。

方法

本研究包括一系列 200 名 MPN 患者（92 名真性红细胞增多症、68 名原发性血小板增多症和 40 名原发性骨髓纤维化）。使用聚合酶链反应扩增每个样本的 DNA，以检测 Janus 激酶 2 (JAK2)、钙网蛋白 (CALR) 和骨髓增殖性白血病病毒癌基因 (MPL) 突变。Sanger测序用于确定突变类型。

结果

在 200 个样本中，44% 有 JAK2V617F，10% 携带 CALR 突变，2 型是本研究中最常见的类型 (55%)。未检测到 MPL 或 JAK2 外显子 12 突变。所有临床和血液学数据与其他人群没有差异，除了我们的 CALR 阳性患者与 JAK2V617F 阳性患者相比血小板计数减少。

结论

我们对埃及患者的研究显示 JAK2 突变的特定分子谱，并且 CALR 突变 2 型高于 1 型。