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目的:本研究应用快速、高敏感性和特异性的荧光原位杂交技术(fluorecence in situ hybridization,FISH)检测BCR/ABL融合基因并对阳性病例进行分析。方法:回顾性分析2010年4月至2012年4月用FISH法检测初诊考虑为慢性骨髓增殖性疾病(chronic myeloproliferative disease,CMPD)或骨髓增生异常/骨髓增殖性疾病(myelodysplastic myeloproliferative disorders,MDS/MPD)、急性淋巴细胞白血病患者(acute lympho-cyte leukemia,ALL)及口服格列卫的慢性髓系白血病(chronic myeloid leukemia,CML)和ALL患者的BCR/ABL融合基因的表达情况。结果:BCR/ABL融合基因阳性的病例共456例,其中经骨髓细胞学初诊为CML的350例,占总阳性病例的76.8%;CML复查病例为85例,占总阳性病例的18.6%;诊断为B细胞型ALL(B-ALL)的21例,占总阳性病例的4.6%。31例初诊为CMPD和MDS/MPD的患者中,有5例患者骨髓形态学诊断为CML,应用FISH法检测BCR/ABL融合基因均为阳性(100%);另26例患者骨髓形态学诊断为非CML的CMPD及MDS/MPD,BCR/ABL融合基因均为阴性(100%)。79例骨髓形态学诊断为ALL患者应用FISH法检测BCR/ABL融合基因,其中阳性病例为21例,占ALL病例的26.6%。45例初次口服格列卫的CML患者,6个月达到主要分子生物学缓解(major molecular response,MMR)或完全分子生物学缓解(complete molecularresponse,CMR)的为21例,占46.7%,12个月为40例,占88.9%。2例CML移植患者分别在91天和16个月发现融合基因阳性。结论:FISH法检测BCR/ABL融合基因快速、简单、特异性高、可靠,弥补了染色体检测报告需要时间长等不足。对CMPD和MDS/MPD的诊断及鉴别诊断有重要价值;可明确Ph+ALL患者的诊断;在监测格列卫疗效和微小残留病灶(minimal residual desease,MRD)方面也有重要意义。
OBJECTIVE: In this study, BCR / ABL fusion gene was detected by rapid, sensitive and specific fluorescence in situ hybridization (FISH) and the positive cases were analyzed. Methods: A retrospective analysis was performed from April 2010 to April 2012. FISH was used to detect newly diagnosed chronic myeloproliferative disease (CMPD) or myelodysplastic myeloproliferative disorders (MDS / MPD) ), Acute lympho-cyte leukemia (ALL) and oral Gleevec chronic myeloid leukemia (CML) and BCR / ABL fusion gene in patients with ALL. Results: A total of 456 cases were positive for BCR / ABL fusion gene, of which 350 were newly diagnosed as CML by bone marrow cytology, accounting for 76.8% of the total positive cases; 85 cases were CML retrospectively, accounting for 18.6% of the total positive cases; diagnosis 21 cases of B-cell ALL (B-ALL), accounting for 4.6% of the total positive cases. Among the 31 newly diagnosed patients with CMPD and MDS / MPD, 5 patients were diagnosed as CML by morphology and BCR / ABL fusion gene by FISH (100%). The other 26 patients were diagnosed as Non-CML CMPD and MDS / MPD, BCR / ABL fusion gene were negative (100%). 79 cases of bone marrow morphology diagnosed as ALL patients were detected by FISH BCR / ABL fusion gene, including 21 cases of positive cases, accounting for 26.6% of ALL cases. Twenty-one patients (46.7%) and 12 patients (36.7%) were CML patients with initial Gleevec oral administration after six months of achieving major molecular response (MMR) or complete molecular response (CMR) Month was 40 cases, accounting for 88.9%. Two patients with CML transplantation found positive fusion genes at 91 days and 16 months respectively. Conclusion: The FISH method for detecting BCR / ABL fusion gene is rapid, simple, highly specific and reliable, which can make up for the short time of chromosomal test report. It is valuable for the diagnosis and differential diagnosis of CMPD and MDS / MPD. It can confirm the diagnosis of Ph + ALL patients and is also of great significance in monitoring the efficacy of Gleevec and minimal residual desease (MRD).