中华血液学杂志
中華血液學雜誌
중화혈액학잡지
Chinese Journal of Hematology
2010年
12期
809-812
,共4页
李璘%张悦%马晓瑭%杨琳%徐泽锋%肖志坚
李璘%張悅%馬曉瑭%楊琳%徐澤鋒%肖誌堅
리린%장열%마효당%양림%서택봉%초지견
骨髓增生异常综合征%基因,NPM1%DNA突变分析
骨髓增生異常綜閤徵%基因,NPM1%DNA突變分析
골수증생이상종합정%기인,NPM1%DNA돌변분석
Myelodysplastic syndromes%Gene,NPM1%DNA mutation analysis
目的 探讨原发性骨髓增生异常综合征(MDS)患者NPM1基因突变情况及其与MDS患者临床特征的关系.方法 对232例原发性MDS患者采用基因组DNA聚合酶链反应(PCR)扩增NPM1基因第12外显子,直接测序检测突变状态,克隆后测序鉴定突变类型.比较NPM1突变患者与野生型患者的临床及实验室特征.结果 232例患者中NPM1突变9例(3.9%),均为A型突变.NPM1突变患者中性粒细胞绝对值(ANC)较低[突变型和野生型患者分别为0.60(0.12～2.91)×109/L和1.02(0～10.23)×109/L,P=0.046],骨髓原始细胞比例较高[突变型和野生型患者分别为0.050(0～0.090)和0.025(0～0.190),P=0.035],干/祖细胞培养后红系爆式集落(BFU-E)数量减低[突变型和野生型患者105个骨髓单个核细胞中集落数分别为0(0～0)和6(0～40),P=0.038],血清维生素(Vit)B12水平较高[突变型和野生型患者分别为936.40(373.80～2400.00)pmol/L和557.85(17.00～3032.10)pmol/L,P=0.045].NPM1突变患者以正常核型为主.结论 NPM1基因突变的MDS患者具有一些独特的临床和实验室特征,此为进一步研究NPM1基因突变与原发性MDS发生及转变为白血病的关系提供了重要线索.
目的 探討原髮性骨髓增生異常綜閤徵(MDS)患者NPM1基因突變情況及其與MDS患者臨床特徵的關繫.方法 對232例原髮性MDS患者採用基因組DNA聚閤酶鏈反應(PCR)擴增NPM1基因第12外顯子,直接測序檢測突變狀態,剋隆後測序鑒定突變類型.比較NPM1突變患者與野生型患者的臨床及實驗室特徵.結果 232例患者中NPM1突變9例(3.9%),均為A型突變.NPM1突變患者中性粒細胞絕對值(ANC)較低[突變型和野生型患者分彆為0.60(0.12～2.91)×109/L和1.02(0～10.23)×109/L,P=0.046],骨髓原始細胞比例較高[突變型和野生型患者分彆為0.050(0～0.090)和0.025(0～0.190),P=0.035],榦/祖細胞培養後紅繫爆式集落(BFU-E)數量減低[突變型和野生型患者105箇骨髓單箇覈細胞中集落數分彆為0(0～0)和6(0～40),P=0.038],血清維生素(Vit)B12水平較高[突變型和野生型患者分彆為936.40(373.80～2400.00)pmol/L和557.85(17.00～3032.10)pmol/L,P=0.045].NPM1突變患者以正常覈型為主.結論 NPM1基因突變的MDS患者具有一些獨特的臨床和實驗室特徵,此為進一步研究NPM1基因突變與原髮性MDS髮生及轉變為白血病的關繫提供瞭重要線索.
목적 탐토원발성골수증생이상종합정(MDS)환자NPM1기인돌변정황급기여MDS환자림상특정적관계.방법 대232례원발성MDS환자채용기인조DNA취합매련반응(PCR)확증NPM1기인제12외현자,직접측서검측돌변상태,극륭후측서감정돌변류형.비교NPM1돌변환자여야생형환자적림상급실험실특정.결과 232례환자중NPM1돌변9례(3.9%),균위A형돌변.NPM1돌변환자중성립세포절대치(ANC)교저[돌변형화야생형환자분별위0.60(0.12～2.91)×109/L화1.02(0～10.23)×109/L,P=0.046],골수원시세포비례교고[돌변형화야생형환자분별위0.050(0～0.090)화0.025(0～0.190),P=0.035],간/조세포배양후홍계폭식집락(BFU-E)수량감저[돌변형화야생형환자105개골수단개핵세포중집락수분별위0(0～0)화6(0～40),P=0.038],혈청유생소(Vit)B12수평교고[돌변형화야생형환자분별위936.40(373.80～2400.00)pmol/L화557.85(17.00～3032.10)pmol/L,P=0.045].NPM1돌변환자이정상핵형위주.결론 NPM1기인돌변적MDS환자구유일사독특적림상화실험실특정,차위진일보연구NPM1기인돌변여원발성MDS발생급전변위백혈병적관계제공료중요선색.
Objective To investigate NPM1 gene mutations in patients with primary myelodysplastic syndromes (MDS) and the clinical characteristics of patients with NPM1 mutants. Methods Genomic DNA Corresponding to exon 12 of NPM1 gene was amplified by polymerase chain reaction(PCR) in 232 patients with primary MDS. Identification of mutants was by direct sequencing and classification of mutation types by sequencing followed by plasmid cloning. Results NPM1 mutants were found in 9 patients(3.9% ) . All the mutants were type A. As compared with those with NPM1 wild type, patients with the mutant were of lower ANC [0.60 (0. 12 - 2.91 ) × 109/L vs 1.02 (0 - 10. 23 ) × 109/L, P = 0.046], higher blast percent in bone marrow [0.050(0 -0. 090) vs 0. 025(0 -0. 190) ,P =0. 035], decreased BFU-E[0(0 -0)/105 BMMNC vs 6(0 - 40 )/105 BMMNC, P = 0. 038]and increased serum vitamin B17 [936.40 ( 373.80 -2400.00) pmol/L vs 557.85 ( 17.00 - 3032.10) pmol/L, P = 0.045]The chromosomal karyotypes of patients with NPM1 mutant were predominantly normal. Conclusion MDS patients with NPM1 gene mutations have some unique clinical and laboratory features. The results give new hint for the pathogenesis of MDS development and progression.
