Impact of CALR and JAK2V617F Mutations on Clinical Course and Disease Outcomes in Essential Thrombocythemia: A Multicenter Retrospective Study in Turkish Patients.

IF 1.5 4区医学 Q3 HEMATOLOGY

Turkish Journal of Hematology Pub Date : 2024-03-01 DOI:10.4274/tjh.galenos.2024.2023.0430

Zehra Narlı Özdemir, Yıldız İpek, Püsem Patır, Gözde Ermiş, Rafiye Çiftçiler, Deniz Özmen, Mehmet Baysal, Vildan Gürsoy, Esra Yıldızhan, Serkan Güven, Tarık Ercan, Tayfun Elibol, Sinan Mersin, Eylem Genç, Eren Arslan Davulcu, Volkan Karakuş, Nergiz Erkut, Gürsel Güneş, Reyhan Diz Küçükkaya, Ahmet Emre Eşkazan

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引用次数: 0

Abstract

Objective: In this study, we investigated the effects of calreticulin (CALR) and JAK2V617F mutational status on clinical course and disease outcomes in Turkish patients with essential thrombocythemia (ET).

Materials and methods: Seventeen centers from Türkiye participated in the study and CALR- and JAK2V617F-mutated ET patients were evaluated retrospectively.

Results: A total of 302 patients were included, of whom 203 (67.2%) and 99 (32.8%) were JAK2V617F- and CALR-positive, respectively. CALR-mutated patients were significantly younger (51 years vs. 57.5 years, p=0.03), with higher median platelet counts (987x10⁹/L vs. 709x10⁹/L, p<0.001) and lower median hemoglobin levels (13.1 g/dL vs. 14.1 g/dL, p<0.001) compared to JAK2V617F-mutated patients. Thromboembolic events (TEEs) occurred in 54 patients (17.9%), 77.8% of which were arterial. Compared to CALR mutation, JAK2V617F was associated with a higher risk of thrombosis (8.1% vs. 22.7%, p=0.002). Rates of transformation to myelofibrosis (MF) and leukemia were 4% and 0.7%, respectively, and these rates were comparable between JAK2V617F- and CALR-mutated cases. The estimated overall survival (OS) and MF-free survival of the entire cohort were 265.1 months and 235.7 months, respectively. OS and MF-free survival durations were similar between JAK2V617F- and CALR-mutated patients. Thrombosis-free survival (TFS) was superior in CALR-mutated patients compared to JAK2V617F-positive patients (5-year TFS: 90% vs. 71%, respectively; p=0.001). Age at diagnosis was an independent factor affecting the incidence of TEEs.

Conclusion: In our ET cohort, CALR mutations resulted in higher platelet counts and lower hemoglobin levels than JAK2V617F and were associated with younger age at diagnosis. JAK2V617F was strongly associated with thrombosis and worse TFS. Hydroxyurea was the most preferred cytoreductive agent for patients with high thrombosis risk.

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CALR和JAK2V617F突变对重要血小板增多症临床过程和疾病结局的影响：土耳其患者的多中心回顾性研究。

研究目的在这项研究中，我们调查了钙网蛋白（CALR）和JAK2V617F突变状态对土耳其原发性血小板增多症（ET）患者的临床过程和疾病预后的影响：来自土耳其的17个中心参与了这项研究，并对CALR和JAK2V617F突变的ET患者进行了回顾性评估：共纳入 302 例患者，其中 203 例（67.2%）和 99 例（32.8%）分别为 JAK2V617F 阳性和 CALR 阳性。CALR突变患者明显更年轻（51岁对57.5岁，P=0.03），血小板计数中位数更高（987x109/L对709x109/L，pJAK2V617F突变患者。54名患者（17.9%）发生了血栓栓塞事件（TEE），其中77.8%为动脉血栓栓塞。与CALR突变相比，JAK2V617F与更高的血栓风险相关（8.1% vs. 22.7%，P=0.002）。骨髓纤维化（MF）和白血病的转化率分别为4%和0.7%，JAK2V617F和CALR突变病例的转化率相当。整个队列的估计总生存期（OS）和无MF生存期分别为265.1个月和235.7个月。JAK2V617F-和CALR突变患者的OS和无血栓生存期相似。CALR突变患者的无血栓生存期（TFS）优于JAK2V617F阳性患者（5年TFS：分别为90%和71%；P=0.001）。诊断时的年龄是影响TEE发生率的一个独立因素：结论：在我们的ET队列中，与JAK2V617F相比，CALR突变会导致更高的血小板计数和更低的血红蛋白水平，并且与更年轻的诊断年龄相关。JAK2V617F与血栓形成和较差的TFS密切相关。对于血栓形成风险较高的患者，羟基脲是最理想的细胞修复药物。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Turkish Journal of Hematology HEMATOLOGY-

CiteScore

2.90

自引率

3.80%

发文量

审稿时长

1 months

期刊介绍： The Turkish Journal of Hematology is published quarterly (March, June, September, and December) by the Turkish Society of Hematology. It is an independent, non-profit peer-reviewed international English-language periodical encompassing subjects relevant to hematology. The Editorial Board of The Turkish Journal of Hematology adheres to the principles of the World Association of Medical Editors (WAME), International Council of Medical Journal Editors (ICMJE), Committee on Publication Ethics (COPE), Consolidated Standards of Reporting Trials (CONSORT) and Strengthening the Reporting of Observational Studies in Epidemiology (STROBE). The aim of The Turkish Journal of Hematology is to publish original hematological research of the highest scientific quality and clinical relevance. Additionally, educational material, reviews on basic developments, editorial short notes, images in hematology, and letters from hematology specialists and clinicians covering their experience and comments on hematology and related medical fields as well as social subjects are published. As of December 2015, The Turkish Journal of Hematology does not accept case reports. Important new findings or data about interesting hematological cases may be submitted as a brief report.