Khan Mehreen Ali, Ahmed Suhaib, Sadiq Muhammad Arif, Khan Maryam, Khan Memoona, Akram Zaineb
Mehreen Ali Khan, MCPS, FCPS, Armed Forces Bone Marrow Transplant Centre, Rawalpindi, Pakistan.
Suhaib Ahmed, FCPS, PhD Department of Pathology, Riphah International University, Islamabad, Pakistan.
Pak J Med Sci. 2025 Jul;41(7):2003-2009. doi: 10.12669/pjms.41.7.12129.
This study aimed to screen myeloproliferative neoplasm (MPN) patients for four known genetic variants to establish a diagnosis before treatment.
This descriptive cross-sectional study was conducted at the Armed Forces Bone Marrow Transplant Center (AFBMTC), Rawalpindi, between January 2018 to January 2021. A total of 159 MPN patients were enrolled. Peripheral blood samples were screened for somatic variants in JAK2 V617F, JAK2 exon 12, CALR, and cMPL genes. The JAK2 V617F and cMPL mutations were analyzed using conventional PCR, while JAK2 Exon 12 and CALR mutations were analyzed using the fragment analysis technique. The gene scan data was interpreted by analyzing the electropherograms and the genotyping data sheet. The data were analyzed using the Statistical Package for Social Sciences (SPSS) version 25.0.
Out of a total of 159 MPN patients, 104 (65.4%) were males and 55 (34.6%) females. The median age of patients was 54 years (IQR: 38-64). 69 (43.4%) were diagnosed with primary myelofibrosis (PMF), 60 (37.7%) as polycythemia vera (PV), and 30 (18.9%) as essential thrombocytosis (ET). The frequency of the JAK2 V617F mutation in PV, ET, and PMF patients was 52.6%, 11.1%, and 37.3%, respectively. CALR mutation was observed only in 1 PMF and 5 (16.7%) ET patients. Additionally, cMPL mutation was not found among our patients.
The four analyzed mutations are among the diagnostic criteria established by the World Health Organization, which enable a quick and reliable diagnosis of MPN.
本研究旨在对骨髓增殖性肿瘤（MPN）患者进行4种已知基因变异的筛查，以便在治疗前做出诊断。
本描述性横断面研究于2018年1月至2021年1月在拉瓦尔品第的武装部队骨髓移植中心（AFBMTC）进行。共纳入159例MPN患者。对外周血样本进行JAK2 V617F、JAK2第12外显子、CALR和cMPL基因的体细胞变异筛查。JAK2 V617F和cMPL突变采用常规聚合酶链反应（PCR）分析，而JAK2第12外显子和CALR突变采用片段分析技术分析。通过分析电泳图和基因分型数据表对基因扫描数据进行解读。数据采用社会科学统计软件包（SPSS）25.0版进行分析。
159例MPN患者中，男性104例（65.4%），女性55例（34.6%）。患者的中位年龄为54岁（四分位间距：38 - 64岁）。69例（43.4%）诊断为原发性骨髓纤维化（PMF），60例（37.7%）为真性红细胞增多症（PV），30例（18.9%）为原发性血小板增多症（ET）。PV、ET和PMF患者中JAK2 V617F突变的频率分别为52.6%、11.1%和37.3%。仅在1例PMF患者和5例（16.7%）ET患者中观察到CALR突变。此外，在我们的患者中未发现cMPL突变。
所分析的4种突变属于世界卫生组织制定的诊断标准，能够快速、可靠地诊断MPN。
