摘要
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：This study was aimed to investigate the clinicai value of detecting BCR/ABL fusion gene positively detected by quick, high sensitive and specific fluorescence in situ hybridization （FISH）. Methods： Cases whose preliminary diagnosis was chronic myeloproliferative disease （ CMPD）, myel odyspl astic myeloproliferative dis- orders （MDS/MPD） or acute lymphocyte leukemia （ALL） from April,2010 to 2012 were analyzed restrospectively a- bout the expression of BCR/ABL fusion gene detected by FISH. Results： There were BCR/ABL fusion gene positive 456 eases, including 350 newly diagnosed chronic myeloid leukemia（CML） cases which was 76.8% of total positive eases,85 reexamined CML cases which was 18.6% of total positive cases and 21 B cell - ALL cases which was 4.6% of total positive cases. Among 31 preliminary diagnosed CMPD and MDS/MPD cases,5 cases were diagnosed CML by bone marrow cell morphology test and all expressed positive BCR/ABL fusion gene. 26 cases were diagnosed non CML and MDS/MPD by bone marrow cell morphology test and all expressed negative BCR/ABL fusion gene. BCR/ABL fusion genes of 21 ALL cases were positive and 26.6% of 79 ALL cases detected by FISH. 45 primary CML patients took oral Glivec. After 6 months 21/45 patients received major molecular response（MMR） or complete molecular response（CMR）. After 12 months 40/45 patients received MMR or CMR. 2 cases CML transplant patients respectively were detected positive fusion gene in 91 days and 16 months. Conclusion： The detection of BC ABL fu- sion gene by FISH is rapid, simple, reliable, high specific,which could make up of shortage of long time detected by chromosome test. Meanwhile it was very important for the diagnosis and differentialdignosis of CMPD and MDS /MPD ,as well as definite diagnosis of Ph ALL. This method also had an important significance for monitor of minimal residual desease（MRD） in CML patients received allogeneic hematopoietic stem cell transplantation（allo- HSCT）.
出处
《现代肿瘤医学》
CAS
2013年第3期638-641,共4页
Journal of Modern Oncology
