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在一名费城染色体阴性急性淋巴细胞白血病患者中,通过逆转录/聚合酶链反应和荧光原位杂交检测BCR-ABL基因。

Detection of the BCR-ABL gene by reverse transcription/polymerase chain reaction and fluorescence in situ hybridization in a patient with Philadelphia chromosome negative acute lymphoblastic leukaemia.

作者信息

van Rhee F, Kasprzyk A, Jamil A, Dickinson H, Lin F, Cross N C, Galvin M C, Goldman J M, Secker-Walker L M

机构信息

LRF Centre for Adult Leukaemia, Royal Postgraduate Medical School, London.

出版信息

Br J Haematol. 1995 May;90(1):225-8. doi: 10.1111/j.1365-2141.1995.tb03408.x.

DOI:10.1111/j.1365-2141.1995.tb03408.x
PMID:7786793
Abstract

The Philadelphia (Ph) chromosome is detected in leukaemia cells in approximately 20% of adults with acute lymphoblastic leukaemia (ALL). When treated with chemotherapy alone, Ph-positive ALL has a poor prognosis, and patients may benefit from bone marrow transplantation in first remission. Here we report a patient with chromosomally normal bone marrow, in all 60 cells analysed, who was found to have the p210-type BCR-ABL chimaeric transcript by RT/PCR. Fluorescence in situ hybridization was labelled cosmid probes for BCR and ABL showed the presence of BCR-ABL juxtaposition on a normal chromosome 22 in leukaemia cell metaphases. We conclude that molecular and cytogenetic methods should be used in conjunction to detect the BCR-ABL gene rearrangement in ALL.

摘要

在大约20%的成年急性淋巴细胞白血病(ALL)患者的白血病细胞中可检测到费城(Ph)染色体。单独接受化疗时,Ph阳性ALL的预后较差,患者在首次缓解时可能受益于骨髓移植。我们在此报告一名骨髓染色体正常的患者,在分析的所有60个细胞中,通过逆转录/聚合酶链反应(RT/PCR)发现其具有p210型BCR-ABL嵌合转录本。荧光原位杂交用针对BCR和ABL的黏粒探针标记,结果显示在白血病细胞中期的一条正常22号染色体上存在BCR-ABL并置。我们得出结论,应联合使用分子和细胞遗传学方法来检测ALL中的BCR-ABL基因重排。

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Detection of the BCR-ABL gene by reverse transcription/polymerase chain reaction and fluorescence in situ hybridization in a patient with Philadelphia chromosome negative acute lymphoblastic leukaemia.在一名费城染色体阴性急性淋巴细胞白血病患者中,通过逆转录/聚合酶链反应和荧光原位杂交检测BCR-ABL基因。
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[The monitoring of BCR-ABL mRNA by reverse transcription PCR in patients undergoing allogeneic bone marrow transplantation for acute lymphoblastic leukemia with a positive Philadelphia chromosome].[采用逆转录聚合酶链反应监测费城染色体阳性急性淋巴细胞白血病患者接受异基因骨髓移植时的BCR-ABL信使核糖核酸]
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Polymerase chain reaction analysis of BCR-ABL sequences in adult Philadelphia chromosome-negative acute lymphoblastic leukemia patients.成年费城染色体阴性急性淋巴细胞白血病患者BCR-ABL序列的聚合酶链反应分析
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引用本文的文献

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Array-based comparative genomic hybridization detects copy number variations with prognostic relevance in 80% of ALL with normal karyotype or failed chromosome analysis.基于阵列的比较基因组杂交技术在 80%的核型正常或染色体分析失败的 ALL 患者中检测到具有预后相关性的拷贝数变异。
Leukemia. 2016 Feb;30(2):318-24. doi: 10.1038/leu.2015.276. Epub 2015 Oct 9.
2
An unusual case of high hyperdiploid childhood ALL with cryptic BCR/ABL1 rearrangement.一例伴有隐匿性BCR/ABL1重排的儿童高超二倍体急性淋巴细胞白血病罕见病例。
Mol Cytogenet. 2014 Oct 24;7(1):72. doi: 10.1186/s13039-014-0072-9. eCollection 2014.
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Biomarkers of leukemia risk: benzene as a model.
白血病风险的生物标志物:以苯为例
Environ Health Perspect. 1998 Aug;106 Suppl 4(Suppl 4):937-46. doi: 10.1289/ehp.98106s4937.