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1、早幼粒细胞白血病实验诊断及临床分析【摘要】日的:报告首例伴有8号染色体四体(I川体8)异常的口5;17)急性早幼粒白血病(AMLM3a),并研究其形态学、细胞遗传学、免疫学及临床特点。方法:外周血及骨髓标本直接涂片观察具形态学改变;采川骨髓细胞24h短期培养法制备染色体标本,RHG显带技术进行核型分析;以筑巢式逆转录聚合酶链反应(nestedRTPCR)技术检测PMLRARa融合基因转录木;以流式细胞术检测免疫表型。结果:外周血涂片中早幼粒细胞占65%,可见中晚幼粒细胞。骨髄涂片显示有核细胞增生明显活跃,粒系83.6%,其屮早幼粒细胞占72.4%
2、,胞浆内可见大量紫红色颗粒。染色体核型分析揭示核型为48,XV,+8,+8,t(15;17)(q22;ql2)[16]/47,XY,+8,t(15;17)(qxx:ql2)[3]/46,XY,t(15;17)(q22;ql2)[l]oRTPCR检测PMLRARa(+),白血病细胞免疫表型检测显示CD13(96.2%).CD33(55.9%)、CYMPO(93.5%)阳性,其余抗原包括淋系抗原在内均为阴性。木例患者牛:存期只有10<1。结论:本例四体8是t(15;17)的继发性改变,可能是三体8克降进展的结果。伴有四体8的t(15;17)AMLM3
3、预后差。【关键词】急性早幼粒细胞白血病核型分析染色体畸变四体8Trialdignosisandclinicalanalysisofacutepromyelociticleukemiawitht(15;17)andtetrasomy8LIGuoxia,WANGHuiping,ZHOUYongan,ZHULei,QIAOZhenhua,WANGHongwei(TheSecondHospitalofShanxiMedicalUniversity,Taiyuan030001,China)Abstract:Objective:Toreportthefirs
4、tcaseofacutepromyelociticleukemia(AMLM3a)witht(15;17)andtetrasomyS,andexplorethecharacteristicsofmorphology,cytogenetics,immunologyandclinic.Methods:Morphologicalchangeswereobservedbyperipheralbloodandbonemarrowsmears.Chromosomespecimenwerepreparedby24hshorttenncultureofbonem
5、arrowcell,RHGbandingtechniquewasusedforkaryotypicanalysis.PMLRARafusiongenetranscriptwasdetectedbynestedreversetranscriptionpolymerasechainreaction(nestedRTPCR).Immunophenotypicanalysiswasperformedbyflowcytometry.Results:Peripheralbloodsmearrevealed65%promyelocyte,andbonemarr
6、owaspiratewashypercellularwith72.4%promyelocyte,moderatelybasophiliccytoplasmwithnumerousazurophilicgranules.Karyotypeanalysisshowed48,XY,+8,+8,t(15;17)(q22;ql2)[16]/47,XY,+8,t(15;17)(q22,ql2)[3]/46,XY,t(15;17)(q22;q⑵[1].RTPCRassayrevealedPMLRARafusiongenetranscript(+).Immuno
7、phenotypeoftheblastswas:CD1396.2%,CD3355.9%,CYMPO93.5%,therestincludingallthelymphoidmarkerstestedwerenegative.Thesurvivalwas10days.Conclusion:Tetrasomy8wassecondarycytogeneticeventaftert(15;17)inthiscase.Itmaybeaconsequenceofclonedevolutionoftrisomy8・t(15;17)AMLM3withtetraso
8、my8heraldsapoorprognosis・Keywords:acutepromyelociticLeukemia;karyoty