Objective: To investigate the clinical characteristics of essential thrombocytopenia (ET) patients with positive mutations including JAK2, CALR, MPL, or negative mutations.
Methods: A total of 66 newly diagnosed ET cases from January 2016 to December 2018 in Department of Hematology, Huaian No.1 People's Hospital affiliated to Nanjing Medical University were analyzed. Statistical analysis data included the patient's sex, age, symptoms, thrombosis and embolism events, spleen omegaly, platelet count (Plt), leukocyte (WBC) count, hemoglobin (Hb), fibrinogen (FIB), thrombus elastic diagram (TEG), serum potassium, blood glucose (GLU), lactate dehydrogenase (LDH), JAK2, CALR and MPL mutations, treatment options, and efficacy.
Results: All the patients were not MPL-positive, and divided in three groups: JAK2 mutation (46 cases, 69.7%), CALR mutation (9 cases, 13.6%) and gene negative mutation (11 cases, 16.7%) group. The average age of patients in the JAK2 mutation group was 63.2 years old, and significantly higher than that in the CALR mutation group (51.8 year) and gene negative group (50.2 year) (P＜0.05). Compared with the JAK2 mutation group and gene negative group, the CALR mutation group had lower WBC count (6.3×109/L vs 13.79×109/L) (P=0.003) (6.3×109/L vs 9.70×109/L) (P=0.009). Also the Hb level of patients in CALR mutation group was lower than the JAK2 mutation group (121.22 g/L vs 136.2 g/L) (P=0.036). However, there was higher tumor burden in the CALR mutation group, compared with the gene negative mutation group (300.11 U/L vs 227.4 U/L) (P=0. 033). There was no significant difference among the three groups, such as the Plt counts, serum potassium level, GLU level and FIB level (P＞0.05). In addition, thrombus and embolism appeared in 30.3% (20/66) cases. 18.2% (12/66) cases were complicated with hyperkalemia, which significantly correlated with Plt counts (r=0.518). TEG was performed in 34 patients, of which 41.2% (14/34) had abnormal TEG and 55.9% (19/34) were accompanied by Plt count ＞ 1 000 ×109/L, but there was no significant correlation between them (r=0.134). After routine clinical treatment, all the 66 cases achieved partial or complete hematological remission, but the disease usually repeated. Until now 4.5% (3/66) cases had been converted to myelofibrosis (MF) all with JAK2 mutation, but without advancing to acute myeloid leukemia.
Conclusion: ET patients with JAK2 mutation have higher incidence, moreover were in older age. However, the patients with CALR mutations display lower WBC count and Hb level, but higher tumor burden. In short, the multiple gene mutations of ET showed different clinical features closely relates with the prognosis, thus providing guidance for the clinical diagnosis and treatment.
题目: 原发性血小板增多症66例临床分析.
目的: 探讨原发性血小板增多症（ET）JAK2、CALR、MPL基因突变及阴性突变患者的临床特点.
方法: 选取2016年01月至2018年12月在南京医科大学附属淮安第一医院血液科住院确诊的66例ET患者，录入患者的性别、年龄、临床症状、有无血栓事件、脾大、血小板数（Plt）、白细胞数（WBC）、血红蛋白（Hb）、纤维蛋白原（FIB）、血栓弹力图（TEG）、血钾、血糖（GLU）、乳酸脱氢酶（LDH）以及JAK2、CALR 和 MPL基因突变，治疗方案及疗效。对以上数据进行统计分析.
结果: 所有患者MPL突变阴性，故根据基因突变分为3组，JAK2突变组（46例，69.7%）、CALR 突变组（9 例，13.6%）和基因阴性组（11例，16.7%）。JAK2突变组患者的平均发病年龄为63.2岁，与CALR突变组（51.8岁）和基因阴性组（50.2岁）相比，具有显著的统计学差异（P＜0.05）。CALR突变组与JAK2突变组、基因阴性组相对比，WBC数低（6.3×109/L vs 13.79×109/L， P=0.003；6.3×109/L vs 9.70×109/L，P=0.009）；Hb水平较JAK2突变组低（121.22 g/L vs 136.2 g/L，P=0.036）； 但CALR突变组的肿瘤负荷较基因阴性组高（300.11 U/L vs 227.4 U/L，P=0.033）；3组之间的Plt数、血钾水平、GLU及FIB水平无统计学差异（P＞0.05）。另外，30.3%（20/66）患者存在血栓及栓塞事件，18.2%（12/66）患者合并高钾血症，且高钾血症与Plt数具有显著的相关性（r=0.518）。34例患者给予TEG检查，其中41.2%（14/34）患者出现TEG异常，55.9%（19/34）同时伴有Plt数＞1000×109/L，但2者之间无显著的相关性（r=0.134）。66例患者采用常规临床治疗方案后均达部分或完全血液学缓解，但有疾病反复，4.5%（3/66）进展为骨髓纤维化（MF），均为具有JAK2突变患者。暂无进展为急性髓系白血病的病例.
结论: 伴有JAK2突变的ET患者发病率更高、且年龄偏大，然而CALR突变阳性患者具有更低的WBC数与Hb水平，却具更高的肿瘤负荷。总之，ET患者多样化的基因突变类型具有不同的临床特征，且与患者预后密切相关，这为临床诊疗工作提供了一定的思路.