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| Ph阴性骨髓增殖性肿瘤患者CALR基因突变与临床特征研究 |
| Association between CALR gene mutations and clinical characteristics in patients with Ph-negative myeloproliferative neoplasms |
| 投稿时间：2025-01-16 |
| DOI：10.3969/j.issn.1000-0399.2026.02.008 |
| 中文关键词: Ph阴性骨髓增殖性肿瘤 CALR基因突变 临床特征 |
| 英文关键词: Ph-negative myeloproliferative neoplasms CALR gene mutation Clinical characteristics |
| 基金项目:新疆维吾尔自治区“天山英才”医药卫生高层次人才培养计划(编号:TSYC202301B055) |
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| 中文摘要: |
| 目的 探讨Ph阴性骨髓增殖性肿瘤（MPN）患者CALR基因突变与临床特征的关系。方法 回顾性分析2016年7月至2024年5月新疆维吾尔自治区人民医院收治的49例Ph阴性MPN患者，根据CALR基因突变情况分为CALR基因突变（+）组（n=19例）和CALR基因突变（-）组（n=30例）；CALR基因突变（+）组再分为CALR Ⅰ型基因突变（+）组（n=10例）和CALR Ⅱ型基因突变（+）组（n=9例）。实时荧光定量聚合酶链式反应（qRT-PCR）检测样本中CALR基因突变。比较各组临床特征差异，应用多元回归分析CALR基因突变对临床特征的影响。结果 CALR基因突变（+）组的脾大发生率、红细胞体积分布宽度-变异系数（RDW-CV）和凝血酶原时间（PT）低于CALR基因突变（-）组（P<0.05），血小板（PLT）计数和肌酸激酶（CK）活性高于CALR基因突变（-）组（P<0.05）；多元回归分析显示，携带CALR基因突变是Ph阴性MPN患者脾大发生风险降低、RDW-CV降低、PLT计数升高和CK活性增加的影响因素（P<0.05）。CALR基因突变Ⅰ型（+）组与CALR基因突变（+）Ⅱ型组患者的临床特征差异无统计学意义（P>0.05）。结论 CALR基因突变（+）组的Ph阴性MPN患者具有独特的临床特征，表现为脾大发生率低、RDW-CV降低、PLT和CK升高，不同突变类型间临床特征相似。 |
| 英文摘要: |
| Objective To explore the relationship between CALR gene mutations and clinical features in patients with Philadelphia chromosome-negative myeloproliferative neoplasms(MPN). Methods We retrospectively analyzed 49 Ph-negative MPN patients treated at People's Hospital of Xinjiang Uygur Autonomous Region between July 2016 and May 2024. Patients were categorized based on CALR mutation status: mutation-positive(+) group(n=19) and mutation-negative(-) group(n=30). CALR mutation positive(+) group was further divided by mutation subtype: CALR type Ⅰ mutation(n=10) group and CALR type Ⅱ mutation(n=9) group. Real-time quantitative polymerase chain reaction(qRT-PCR) was used to detect CALR gene mutations in samples. Clinical features were compared between groups, and multivariate regression analysis was performed to assess the impact of CALR gene mutations on clinical features. Results Compared with the CALR mutationnegative(-) group, the CALR mutation-positive(+) group showed a lower incidence of splenomegaly(P<0.05), lower red cell distribution widthcoefficient of variation(RDW-CV) and prothrombin time(PT)(P<0.05), and higher platelet(PLT) count and creatine kinase(CK) activity(P<0.05). Multivariate regression analysis indicated that carrying a CALR mutation was an independent factor associated with reduced risk of spleP nomegaly, decreased RDW-CV, elevated PLT count, and increased CK activity in Ph-negative MPN patients(<0.05). Clinical features showed no significant differences between the CALR type Ⅰ mutation-positive(+) group and the CALR type Ⅱ mutation-positive(+) group(P>0.05). Conclusion Ph-negative MPN patients in the CALR mutation-positive(+) group exhibit distinct clinical characteristics, manifested as lower incidence of splenomegaly, reduced RDW-CV, and elevated PLT count and CK activity. Clinical features are similar between the CALR type Ⅰ mutation-positive(+) group and the CALR type Ⅱ mutation-positive(+) group. |
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