慢性髓系白血病不同bcrabl融合基因转录子与临床关系的研究  

Study on relationship between different bcr/abl fusion transcripts and clinical manifestations in chronic myeloid leukemia

作　　者：秦亚溱[1] 刘艳荣[1] 李金兰[1] 王卉[1] 常艳[1] 付家瑜[1] 阮国瑞[1] 丘镜滢[1] 陆道培[1] 陈珊珊[1] 

机构地区：[1]北京大学人民医院血液病研究所,100044

出　　处：《中华血液学杂志》2003年第7期347-350,共4页Chinese Journal of Hematology

摘　　要：目的　研究慢性髓系白血病 (CML)bcr abl融合基因转录子类型与临床的关系。方法　采用RT PCR技术检测 5 37例临床怀疑CML的患者新鲜骨髓标本三种bcr abl(M、m及 μ型 )融合基因的表达。结果　 4 79例CML患者M bcr abl阳性 ,其中慢性期 (CP) 370例 ,加速 急变期 (AP BC) 10 9例 ,CP期和AP BC期患者表达b2a2型融合基因转录子的百分率分别为 32 .4 % (370例中 12 0例 )及 36 7%(10 9例中 4 0例 ) (P >0 .0 5 ) ,急淋变及急髓变患者b2a2型百分率分别为 5 2 .6 % (19例中 10例 )及33 3% (90例中 30例 ) (P >0 .0 5 ) ;b3a2型患者初诊时外周血血小板数明显高于b2a2型患者 [(4 85 .9±333.8)× 10 9 L]vs [(380 .5± 32 1.9)ⅹ 10 9 L](P <0 .0 5 ) ;6 6 .0 %CP及 6 4 .4 %AP BC患者同时表达M bcr abl及m bcr abl;1例单纯m bcr abl(+)患者表现为急性髓系白血病 (AML) ;2例 μ bcr abl(+)患者均具有典型CML表现。结论　典型CML患者几乎均为M bcr abl融合基因阳性 ,大部分患者同时伴有m bcr abl表达 ,个别CML患者可以为 μ型 ;除了急性淋巴细胞白血病 (ALL)外 ,单纯m bcr abl(+)也可见于AML或CML急粒变的患者 ;b3a2型患者初诊时更易有血小板数增高表现。Objective To investigate the relationship between three types of bcr/abl fusion transcripts and clinical manifestation in chronic myeloid leukemia (CML). Method M , m and μ bcr/abl fusion transcripts were detected by reverse transcriptase polymerase chain reaction(RT PCR) technique in 537 fresh bone marrow samples of patients suspected CML clinically. Results Of 573 patients, 479 expressed M bcr/abl transcripts, among whom 370 were in chronic phase(CP), and 109 in accelerated (AP)/blastic phase (BP). The percentages of patients with b2a2 transcripts in CP and AP/BP were 32.4% (120/370) and 36.7%(40/109)(P>0.05). The b2a2 transcript patients in blastic crisis were 52.6%(10/19) for lymphoblastic and 33.3% (30/90) for myeloblastic (P>0.05).The platelet count of untreated patients with b3a2 isoform [(485.9±333.8)ⅹ10 9/L,n=125] was distinctly higher than those with b2a2 isoform [(380.5±321.9)ⅹ10 9/L, n=62] (P<0.05). 66.0%(31/47) and 64.4%(29/45) of the patients in CP and AP/BP respectively co expressed M and m bcr/abl transcripts (P>0 05). One patient expressed only m bcr/abl transcript was of typical acute myeloblastic leukemia (AML). Both two μ bcr/abl(+) patients were of typical CML. Conclusions Almost all typical CML patients express M bcr/abl transcripts, most of them coexpress M bcr/abl and m bcr/abl transcripts,a few possesses only μ bcr/abl fusion gene. m bcr/abl(+) are usually associated with AML or CML in myeloblastic crisis besides acute lymphoblastic leukemia(ALL). Patients with b3a2 isoform are prone to higher platelet count before treatment.

关 键 词：慢性髓系白血病 BCR/ABL融合基因 基因型 临床表现 

分 类 号：R733.72[医药卫生—肿瘤]