Prevalence of JAK 2 v617 Mutations in Malignant and Non-Malignant Tumors in the Eastern Province of the Kingdom of Saudi Arabia.

IF 0.7 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY Clinical laboratory Pub Date : 2024-12-01 DOI:10.7754/Clin.Lab.2024.240943

Saleh M Alnass, Sahar Aldosari, Saeed S Shaikh, Mohammad A Al-Hamad, Mariam A Al-Ajmi, Fatimah A Almarhoon, Waheed A Almudhry, Amal H A Abu-Saab, Zainab J Almomen, Mousa A Alghanim, Murtadha H A Almadhary, Muneer A Al-Rabea, Rahmah M T Alnass

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Abstract

Background: Janus kinase II (JAK 2) mutation plays a critical part in the pathophysiology of myeloid pathologies and has been presented to be tangled in thrombotic obstacles of these sicknesses. This study documents the prevalence of JAK 2 v617 mutations in malignant and non-malignant tumors in the Eastern province of the Kingdom of Saudi Arabia.

Methods: A total of 112 patients were included in the current study between June 2022 and May 2023 at the Molecular Biology Laboratory of the King Fahad Hospital of the University, AlKhobar, Saudi Arabia. Laboratory data involved the hematological parameters (hemoglobin, mean corpuscular volume, mean corpuscular hemoglobin concentration, mean corpuscular hemoglobin, hematocrit, white blood cells, red blood cells, and platelets) and real-time PCR JAK2 V617F mutation qualitative assay.

Results: The prevalence of JAK 2 disease among 112 patients was found to be (n = 13) 12%. White blood cell count was relatively higher in the positive patients, but the difference was statistically nonsignificant (p = 0.846). Similarly, the hemoglobin level among the positive patients was higher, 14.62 g/dL, but still not significantly higher (p = 0.075). However, red blood cell count in the JAK2 patients was significantly higher compared to the negative patients (p = 0.002). Similarly, the percentage of red blood cells measured by HCT test was also significantly higher among the JAK2-positive patients (p = 0.036) compared to the negative patients.

Conclusions: We believe these observations warrant a comprehensive search for activated tyrosine kinases in myeloproliferative disorders and hematological malignancies, as there are likely additional unidentified genetic events with biological and therapeutic significance. Additional in vitro and in vivo studies are needed to determine the cause of the specificity of JAK2 V617F for myeloid and lymphoid diseases.

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沙特阿拉伯王国东部省份恶性和非恶性肿瘤中JAK 2 v617突变的患病率

背景：Janus kinase II （JAK 2）突变在髓系疾病的病理生理中起着关键作用，并被认为与这些疾病的血栓形成障碍有关。本研究记录了沙特阿拉伯王国东部省份恶性和非恶性肿瘤中JAK 2 v617突变的患病率。方法：本研究于2022年6月至2023年5月在沙特阿拉伯阿尔霍巴尔市法赫德国王大学医院分子生物学实验室共纳入112名患者。实验室数据包括血液学参数（血红蛋白、平均红细胞体积、平均红细胞血红蛋白浓度、平均红细胞血红蛋白、红细胞比容、白细胞、红细胞和血小板）和实时PCR JAK2 V617F突变定性分析。结果：112例患者中JAK - 2患病率为（n = 13） 12%。阳性患者白细胞计数相对较高，但差异无统计学意义（p = 0.846）。同样，阳性患者的血红蛋白水平较高，为14.62 g/dL，但仍未显著升高（p = 0.075）。然而，JAK2患者的红细胞计数明显高于阴性患者（p = 0.002）。同样，与jak2阳性患者相比，HCT检测的红细胞百分比也显著高于阴性患者（p = 0.036）。结论：我们认为这些观察结果值得在骨髓增殖性疾病和血液系统恶性肿瘤中全面寻找活化酪氨酸激酶，因为可能存在其他具有生物学和治疗意义的未确定遗传事件。需要更多的体外和体内研究来确定JAK2 V617F对髓系和淋巴系疾病特异性的原因。

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来源期刊

Clinical laboratory 医学-医学实验技术

CiteScore

1.50

自引率

0.00%

发文量

494

审稿时长

3 months

期刊介绍： Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.