摘要
目的探讨血细胞分析血小板参数对MYH9基因相关疾病(MYH9-related disorders,MYH9-RD)的筛查价值。方法横断面研究,以2016年5月1日至2024年8月31日期间深圳市儿童医院诊治的MYH9-RD患者38例为研究对象,男24例、女14例;年龄11.5(3.8,35)岁;按基因变异位置分为“头部”8例和“尾部”30例;按临床表现分为“单纯血液学”16例和“伴发血液学外表现”22例。以同期免疫性血小板减少症(ITP)39例,急性淋巴细胞白血病(ALL)38例,健康人40名为对照。采用血细胞分析仪器检测血小板相关参数,并采用手工法计数血小板数量和显微镜人工观察血小板大小。采用Kruskal-Wallis检验比较MYH9-RD与ITP、ALL、健康对照组之间血小板参数的差异,采用受试者工作特征(ROC)曲线评估血小板参数对MYH9-RD的诊断效能。结果MYH9-RD血小板平均体积(MPV)为13.4(11.2,14.7)fl、未成熟血小板比率(IPF)为52.7%(43.5%,58.0%)、大血小板比率(PLCR)为57.6%(45.0%,62.9%)、镜检大血小板比率(PLCR-M)为30.0%(25.0%,30.0%),均高于ITP、ALL与健康对照组(均P<0.05)。MYH9基因“头部”变异患者血小板计数[24.5(15.0,47.5)×10^(9)/L]低于“尾部”[69.0(49.5,86.3)×10^(9)/L],差异有统计学意义(Z=-3.493,P<0.001);而IPF高于“尾部”(t=2.024,P=0.044);“伴发血液系统外表现”患者血小板计数低于“单纯血液学”(t=-2.015,P=0.043)。IPF诊断MYH9-RD的最佳截断值为26.7%,敏感度为100%,特异度为98.7%,曲线下面积为0.999(95%CI 0.995~1.000),高于MPV、PLCR和PLCR-M等参数。结论lPF优于MPV等其他血小板参数,对区分MYH9-RD和ITP、ALL等具有较高的诊断效能,可作为MYH9-RD早期筛查的简便有效指标。
ObjectiveTo explore the screening value of platelet parameters from blood cell analysis for MYH9-related disorders(MYH9-RD).MethodsA cross-sectional study was conducted with 38 patients diagnosed with MYH9-RD at Shenzhen Children's Hospital from May 1,2016,to August 31,2024,including 24 males and 14 females;the median age was 11.5(3.8,35)years;categorized by gene mutation location into"head region"(n=8)and"tail region"(n=30);and by clinical manifestations into"isolated hematological manifestations"(n=16)and"hematological manifestations with extra-hematological involvement"(n=22).The control groups included 39 cases of immune thrombocytopenia(ITP),38 cases of acute lymphoblastic leukemia(ALL),and 40 healthy individuals.Platelet-related parameters were detected by hematology analyzer,and platelet counts and sizes were confirmed by manually counting and microscopic observation.Kruskal-Wallis test was used to compare platelet parameters between MYH9-RD and control groups.Receiver operating characteristic(ROC)curves were used to assess the diagnostic efficacy of platelet parameters for MYH9-RD.ResultsIn MYH9-RD patients the median value of mean platelet volume(MPV)was 13.4(11.2,14.7)fl,immature platelet fraction(IPF)was 52.7%(43.5%,58.0%),platelet large cell ratio(PLCR)was 57.6%(45.0%,62.9%),and microscopic large platelet ratio(PLCR-M)was 30.0%(25.0%,30.0%).And those values weresignificantly higher than in ITP,ALL,and healthy controls(all P<0.05).Patients with MYH9 gene"head region"mutations had a lower platelet count[24.5(15.0,47.5)×10^(9)/L]than those with"tail region"mutations[69.0(49.5,86.3)×10^(9)/L](Z=-3.493,P<0.001),but a higher IPF(t=2.024,P=0.044).Patients with"extra-hematological involvement had a lower platelet count than those with"isolated hematological manifestations"(t=-2.015,P=0.043).The optimal cutoff value for diagnosing MYH9-RD with IPF was 26.7%,with a sensitivity of 100%and specificity of 98.7%;the area under the curve was 0.999(95%CI 0.995-1.000),which was superior toMPV,PLCR and PLCR-M parameters.ConclusionIPF is superior to other platelet parameters sush as MPV,showing high diagnostic efficacy in distinguishing MYH9-RD from ITP and ALL.It can be used as a simple and effective indicator for early screening of MYH9-RD.
作者
罗小娟
曹科
黄涛
毛晓宁
张艳
陈诗杨
罗美珠
李长钢
付笑迎
陈运生
Luo Xiaojuan;Cao Ke;Huang Tao;Mao Xiaoning;Zhang Yan;Chen Shiyang;Luo Meizhu;Li Changgang;Fu Xiaoying;Chen Yunsheng(Department of Clinical Laboratory,Children′s Hospital of Shenzhen,Shenzhen 518038,China;Department of Hematology and Oncology,Shenzhen Children′s Hospital,Shenzhen 518038,China)
出处
《中华检验医学杂志》
北大核心
2025年第8期1028-1033,共6页
Chinese Journal of Laboratory Medicine
基金
广东省基础与应用基础研究基金企业联合基金(2022A1515220033,2023A1515220156,2024A1515220079)
深圳市科技创新委员会基础研究(JCYJ20220530155811025,JCYJ20230807093820041,JCYJ20240813112420027)。
