慢性骨髓性白血病。

Boone Dw
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引用次数: 0

摘要

慢性髓性白血病(CML)的特点是22号染色体异常,称为费城染色体(Ph)。Ph值来源于9号和22号染色体之间的易位。22)(问34;问11)。9号染色体长臂上的c-abl癌基因与22号染色体长臂上的bcr基因融合,形成位于ph上的嵌合bcr abl基因,嵌合bcr abl基因产生8.5 kb的bcr abl转录物和嵌合融合蛋白p210 bcr abl。p210 BCR ABL蛋白在CML的白血病发生中起核心作用。图中所示的病例是一个罕见的ph阴性CML病例,具有典型的CML临床表现。在这些ph阴性CML病例中,除了细胞遗传学分析外,荧光原位杂交(FISH)和光谱核型(SKY)FISH等分子生物学分析可作为潜在的诊断工具。FISH和SKY FISH被用作标准g带核型的辅助物。1)实现更高的灵敏度和特异度。FISH和SKY FISH提供了额外的细胞遗传学信息,包括澄清复杂的染色体重排。目前的SKY FISH显示染色体2和9之间的易位(图2)。2), FISH在22号染色体上发现了一个嵌合的bcr abl基因(图2)。3)根据这些发现,本病例最终被诊断为ph阴性和bcr阳性CML。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Chronic myelogenous leukemia.
These discussions are selected from the weekly staff conferences in the Department of Medicine, University of California, San Francisco. Taken from transcriptions, they are prepared by Drs Homer A. Boushey, Associate Professor of Medicine, and David G. Warnock, Associate Professor of Medicine, under the direction of Dr Lloyd H. Smith, Jr, Professor of Medicine and Associate Dean in the School of Medicine. Requests for reprints should be sent to the Department of Medicine, University of California, San Francisco, School of Medicine, San Francisco, CA 94143.
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