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细胞遗传学和分子研究证实慢性骨髓增殖性疾病的组织病理学诊断

[Cytogenetics and molecular studies confirm the histopathologic diagnosis of chronic myeloproliferative diseases].

作者信息

Werner M, Nolte M, Ewing M, Kaloutsi V, Kausche F, Georgii A

机构信息

Pathologisches Institut, Medizinische Hochschule Hannover.

出版信息

Pathologe. 1995 Jan;16(1):41-5. doi: 10.1007/s002920050074.

Abstract

The histopathological classification of chronic myeloproliferative disorders can be supported by applying cytogenetics and molecular genetics to the analysis of bone marrow or blood cells, as demonstrated in 253 cases evaluated. The Philadelphia translocation (9;22) is the most important genetic parameter, being specific for chronic myeloid leukemia. Conventional methods for the detection of the t(9;22) are karyotyping and Southern blot analysis of the bcr gene. The newly established technique of fluorescence in situ hybridization (FISH) allows visualization of bcr-abl fusion even in non dividing cells. Molecular cytogenetics for t(9;22) yield results that are rapid and reliable as well as easily quantifiable.

摘要

正如对253例病例评估所显示的那样,慢性骨髓增殖性疾病的组织病理学分类可通过应用细胞遗传学和分子遗传学分析骨髓或血细胞来辅助。费城染色体易位(9;22)是最重要的遗传学参数,对慢性粒细胞白血病具有特异性。检测t(9;22)的传统方法是核型分析和bcr基因的Southern印迹分析。新建立的荧光原位杂交(FISH)技术甚至可以在非分裂细胞中观察到bcr-abl融合。t(9;22)的分子细胞遗传学结果快速、可靠且易于量化。

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