Academic Journal
慢性中性粒细胞白血病临床和实验室特征及预后因素分析 ; The clinical characteristics, gene mutations and prognosis of chronic neutrophilic leukemia
| العنوان: | 慢性中性粒细胞白血病临床和实验室特征及预后因素分析 ; The clinical characteristics, gene mutations and prognosis of chronic neutrophilic leukemia |
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| المؤلفون: | 崔亚娟, 江倩, 刘晋琴, 李冰, 徐泽锋, 秦铁军, 张悦, 蔡文宇, 张宏丽, 方力维, 潘丽娟, 胡耐博, 曲士强, 肖志坚 |
| المساهمون: | 30002天津，中国医学科学院、北京协和医学院血液学研究所、血液病医院，实验血液学国家重点实验室, 北京大学人民医院 |
| المصدر: | 万方 ; http://d.g.wanfangdata.com.cn/Periodical_zhxyx201701006.aspx |
| بيانات النشر: | 中华血液学杂志 |
| سنة النشر: | 2017 |
| المجموعة: | Peking University Institutional Repository (PKU IR) / 北京大学机构知识库 |
| مصطلحات موضوعية: | 白血病,中性粒细胞,慢性, 染色体核型, 基因,CSF3R, 预后, Leukemia,neutrophilic,chronic, Karyotypes, Gene,CSF3R, Prognosis |
| الوصف: | 目的：探讨慢性中性粒细胞白血病（CNL）患者的临床表现、细胞遗传学和基因突变等实验室特征及预后因素。方法对符合2016年WHO诊断分型标准的16例CNL患者进行资料采集，随访患者并进行预后分析。利用直接测序法检测CSF3R、ASXL1、SETBP1、CALR、MPL基因突变状态，对有突变的样本进行克隆后测序鉴定，采用等位基因特异性聚合酶链反应（AS-PCR）检测JAK2 V617F突变。结果16例CNL患者中位发病年龄为64（43~80）岁，男性占75%（12/16），确诊时中位HGB水平为114（81~154）g/L，中位WBC为41.20（26.05~167.70）×109/L，中位PLT为238（91~394）×109/L。中位骨髓纤维化水平为1（0~3）级。除1例t（1；7）（p32；q11）、1例+21克隆异常及1例14ps+外，余患者均为正常核型。16例CNL患者中，CSF3R T618I突变检出率为100%（16/16），ASXL1突变检出率为81%（13/16），SETBP1突变检出率为63%（10/16），1例患者携带CALR K385fs*47突变，所有患者均无JAK2 V617F突变及MPL突变。CNL患者中位生存期为24（95%CI 18~30）个月。初诊WBC≥50×109/L者中位生存期较＜50×109/L者短（11个月对39个月，P=0.005）。结论 CSF3R T618I突变是CNL的特异性突变。CNL患者中位生存期24个月，确诊时WBC≥50×109/L是不良预后因素。 ; Objective To investigate the clinical manifestation, cytogenetics, gene mutations and prognostic factors of chronic neutrophilic leukemia(CNL). Methods 16 CNL cases, according to WHO (2016)-definition, were reviewed retrospectively. Identifications of the CSF3R, ASXL1, SETBP1, CALR and MPL mutations were performed by direct sequencing. JAK2 V617F mutation was detected by AS-PCR. Results Of the 16 CNL patients, the median age was 64(43-80)years with a male predominance of 75%(12/16). The median hemoglobin was 114(81-154)g/L, with median WBC of 41.20(26.05-167.70) (109/L and median PLT of 238(91-394)× 109/L.The median level of marrow fibrosis(MF)was 1(0-3) degree. There was no other cytogenetic abnormalities except t(1;7)(p32;q11),+21 and 14ps+for each. All the 16 CNL patients harbored CSF3R T618I mutation. ASXL1 mutations were identified in 81%(13/16), while SETBP1 mutations were confirmed in 63%(10/16). The CALR K385fs*47 mutation was found. There was no mutation in JAK2 V617F or MPL in the above 16 patients. The median overall survival(OS) of patients presented with WBC≥50 × 109/L at diagnosis (11 months) was significantly shorter than of WBC<50×109/L(39 months, P=0.005). Conclusion CSF3R T618I mutation was specific for CNL. The median OS of CNL patients was 24 months, and WBC≥50 × 109/L at diagnosis was an unfavorable prognostic factor. ... |
| نوع الوثيقة: | journal/newspaper |
| اللغة: | English |
| تدمد: | 0253-2727 |
| Relation: | 中华血液学杂志. 2017, 38(1), 28-32.; 1936884; http://hdl.handle.net/20.500.11897/484090 |
| DOI: | 10.3760/cma.j.issn.0253-2727.2017.01.006 |
| الاتاحة: | https://hdl.handle.net/20.500.11897/484090 https://doi.org/10.3760/cma.j.issn.0253-2727.2017.01.006 |
| رقم الانضمام: | edsbas.82A12734 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 02532727 |
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| DOI: | 10.3760/cma.j.issn.0253-2727.2017.01.006 |