伴t（1；9；22）亚二倍体罕见核型异常慢性粒细胞白血病急变

【】　目的　观察慢性粒细胞性白血病（chronicmyelogenousleukemia，CML）急变（blastcrisis，BC）患者罕见染色体异常的临床及实验室特点。　方法　2010年2月1例患者因咳嗽和高热来我院就诊，采用常规方法检查患者骨髓细胞，应用R显带技术和荧光原位杂交技术分析骨髓细胞核型。　结果　患者具有CML-BC的典型临床及实验室特点，同时核型出现不典型t（1；9；22）合并亚二倍体罕见核型异常，临床表现病情进展快，对伊马替尼疗效差，生存期短。　结论　慢性粒细胞性白血病患者在急变期出现伴不典型Ph染色体的亚二倍体复杂核型为高危核型，此类患者可能存在对伊马替尼的耐药，如能取得血液学缓解应尽早接受异基因骨髓造血干细胞移植，争取获得长期疗效。【Abstract】　Objective　Toreportacaseofchronicmyelogenousleukemia(CML)blastictransformationintoacutemyelogenousleukemiawithrareatypicalhypodiploidt(1;9;22)complexchromosomeabnormalities,andtoanalyzeitsclinicalandlaboratorycharacteristics.　Methods　A47-year-oldmanwasreferredtoourhospitalduetocoughandhighfeverinFebruary2010.Wecollectedandanalyzedthepatient’sclinicalmaterials,andperformedchromosomalkaryotypeanalysiswithR-bandingandfluorescenceinsituhybridization(FISH).　Results　Thepatientdemonstratedtypicalclinicalandlaboratorycharacteristicsofblasticcrisisofchronicmyelogenousleukemia(CML-BC)anddisplayedrareatypicalhypodiploidt(1;9;22)complexchromosomeabnormalities.Meanwhile,thediseasewasrapidlyprogressive,withpoorresponsetoimatinibandhadshortoverallsurvival.　Conclusions　CML-BCpatientswithhypodiploidycomplexchromosomeabnormalitiesareinhighrisk.Theymayshowdrug-resistancetoimatinib.Thus,forthistypeofpatients,oncethehematologicalremissionisachieved,allogeneicstemcelltransplantshouldbeperformedassoonaspossibletogetbetteropportunityforlong-termsurvival.