%0 Journal Article %T 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 %A 周箭 %A 郭海鹰 %A 陈蓉 %A 郑琳 %A 王小渝 %J 华西医学 %P 1290-1293 %D 2011 %X 【】 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. %K 慢性粒细胞性白血病 %K 急变 %K 核型 %K 亚二倍体 %U http://www.hxyxqk.com.cn/oa/DArticle.aspx?type=view&id=201109004