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[bcr/abl重排在慢性髓性白血病诊断及病情进展中的应用价值]

[The usefulness of the bcr/abl rearrangement in the diagnosis and evolution of chronic myeloid leukemia].

作者信息

González F A, Villegas A, Ferro M T, San Román C, Sáez I, López M, del Potro E, Alvarez A, Martínez R, Díaz Madiavilla J

机构信息

Servicio de Hematología, Hospital Universitario San Carlos, Madrid.

出版信息

Med Clin (Barc). 1993 Oct 30;101(14):521-4.

PMID:8231395
Abstract

BACKGROUND

The rearrangement of the bcr/abl gene constitutes the molecular substrate of the Philadelphia chromosome (Ph'). The aim of this study was to analyze the usefulness of bcr/abl rearrangement in the diagnosis and evolution of chronic myeloid leukemia (CML).

METHODS

The rearrangement of the bcr/abl gene was studied in 81 cases of which 34 corresponded to patients with CML (29 Ph' positive chromosome, 2 Ph' negative chromosome and 3 without karyotype), 2 patients with Ph' positive acute lymphoblastic leukemia, 15 patients with chronic myeloproliferative syndromes different from CML and 30 controls. Of the patients with CML, 6 were reevaluated when a blastic crisis was developed, 2 after receiving interferon treatment and 1 following allogeneic bone marrow transplantation. The technique used was that of Southern blotting using the restriction enzymes Bgl II and BamHI and the transprobe.

RESULTS

Rearrangement of the bcr/abl gene was observed in all the patients with CML except in one with Ph' negative chromosome. In the remaining cases bcr/abl rearrangement was not observed.

CONCLUSIONS

The Southern blotting technique for the study of the bcr/abl gene rearrangement is a sensitive and specific method in the diagnosis of chronic myeloid leukemia constituting a valid alternative to chromosomic study when this cannot be carried out or is not conclusive. It may also be used for the control of treatment in chronic myeloid leukemia.

摘要

背景

bcr/abl基因重排构成了费城染色体(Ph')的分子基础。本研究的目的是分析bcr/abl重排在慢性髓性白血病(CML)诊断和病情演变中的作用。

方法

对81例患者进行了bcr/abl基因重排研究,其中34例为CML患者(29例费城染色体阳性,2例费城染色体阴性,3例无核型),2例费城染色体阳性急性淋巴细胞白血病患者,15例不同于CML的慢性骨髓增殖性综合征患者,以及30例对照。CML患者中,6例在发生急变期时重新评估,2例在接受干扰素治疗后评估,1例在接受异基因骨髓移植后评估。采用的技术是使用限制性内切酶Bgl II和BamHI以及转探针的Southern印迹法。

结果

除1例费城染色体阴性患者外,所有CML患者均观察到bcr/abl基因重排。其余病例未观察到bcr/abl重排。

结论

用于研究bcr/abl基因重排的Southern印迹技术在慢性髓性白血病诊断中是一种敏感且特异的方法,当无法进行染色体研究或染色体研究结果不明确时,它是染色体研究的有效替代方法。它也可用于慢性髓性白血病的治疗监测。

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