急性早幼粒细胞白血病染色体易位联合R显带和间期荧光原位杂交技术分析  

Analysis of chromosome translocations in patient with APL by R-banding technique and interphase fluorescence situ hybridization

作　　者：刘洋[1] 雷婷 陈双[1] 张正昊[1] 郭新红[1] 哈力达.亚森[1] 

机构地区：[1]新疆医科大学第一附属医院血液科,乌鲁木齐830054 [2]乌鲁木齐市友谊医院,乌鲁木齐830049

出　　处：《新疆医科大学学报》2013年第7期938-941,共4页Journal of Xinjiang Medical University

摘　　要：目的探讨荧光原位杂交(FISH)及常规细胞遗传学染色体核型分析技术对急性早幼粒细胞白血病(APL)患者PML/RARa融合基因检测的灵敏度和特异度及其在临床中应用价值。方法选取51例APL患者,应用常规细胞遗传学染色体核型分析方法及FISH技术检测患者PML/RARa融合基因的表达情况。结果在进行常规染色体核型分析的51例患者中41例(80.4%)为t(15;17)(q22;q21)易位的核型异常,其中38例(74.5%)为单纯t(15;17)(q22;q21)易位的核型异常,3例(5.9%)为伴t(15;17)(q22;q21)易位的复杂核型异常;10例(19.6%)无t(15;17)(q22;q21)易位的核型异常中1例(2.0%)为不伴t(15;17)(q22;q21)易位的复杂核型异常,1例(2.0%)为t(11;17)(q13;q21)易位的核型异常,3例(5.9%)为正常核型,5例(9.8%)未见分裂相。在进行FISH检测的51例患者标本中48例(94.1%)有PML/RARa融合基因异常,同时进行常规染色体核型分析和FISH检测的41例患者同时存在t(15;17)(q22;q21)易位的核型异常和PML/RARa融合基因异常,两者符合率为100%;在15例正常骨髓标本的FISH检测中15例标本结果均未发现有PML/RARa融合基因,提示FISH检测技术具有较高的敏感度和特异性。结论对于初发的APL患者,常规染色体核型分析和间期荧光杂交技术结合分析APL患者细胞遗传学特征是诊断该病的有力工具,FISH技术操作更为简单,省时直观。Objective The aim of this study was to explore the PML/RARa fusion gene expression of acute promyelocytic leukemia （APL） patients with fluorescence in situ hybridization （FISH） and conventional cytogenetic （CC） analysis, and then discuss the sensitivity and specificity of two techniques. Methods A total number of 51 APL patients were recruited in this study, and the FISH and CC were applied to analyze cytogenetic features. Results Among all 51 CC samples, t（15;17）（q22;q21） was found in 41 cases, of which 38 cases were isolated t（15;17）（q22;q21） abnormality, 3 cases were complex abnormalities; Among 10 CC without t （15 ; 17） （q22 ; q21） samples, of which 3 cases were normal, 1 case was t （11 ; 17） （ql 3 ; q21） abnormality, 1 case was other complex abnormality and 5 case without mitotic figure. Among all 51 cases of I-FISH group, PML1/RARa fusion gene was found in 48 cases （94.1;）, 41 cases that FISH and CC were applied to analyze cytogenetic features both were found t（15;17）（q22 ;q21） abnormality and PML1/ RARa fusion gene existed, and total conformity rate was 100.0%. It suggested that I-FISH group was more sensitive than CC group （P =0. 016）. In 15 cases of normal bone marrow specimen that FISH was applied to analyze cytogenetic features, PML1/RARa fusion gene was not found, indicating that the FISH detection technology has high sensitivity and specificity. Conclusion It is concluded that combination of I-FISH and CC technique plays a pivotal role for diagnosis in APL. But the sensitivity of CC is weaker than that of FISH for detection of residue disease and FISH technique for PML1/RARa fusion gene detection is a simple, rapid, accurate and direct method.

关 键 词：急性早幼粒细胞白血病 间期荧光原位杂交技术 PML RARa融合基因 

分 类 号：R559[医药卫生—血液循环系统疾病]