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慢性粒细胞白血病(CML)通过t(9;22)易位,使位于9q34的ABL 癌基因和22q11.2的BCR基因融合,这种杂合基因产生的蛋白具有酪氨酸激酶活性并与骨髓组织生成细胞的恶性转化有着因果关系。我们仅仅知道这种相互易位中ABL向22q~-转移对致病的重要性,但相对大量的染色体从22号易位到9号与所有已知的致病结果或细胞功能改变却没有关联。本文作者报告第6例22q~-且未见22q末端实体易位证据的CML,然而该例患者经Southern印迹分析检出BCR重排。象这种没有22q实体易位,检出一次BCR重排的尚属首例。女性患者,年龄49岁,先前身体健康,
Chronic myeloid leukemia (CML) fusions the ABR oncogene at 9q34 and the BCR gene on 22q11.2 via the t (9; 22) translocation. This heterozygous-derived protein has tyrosine kinase activity and binds to bone marrow Malignant transformation of tissue-forming cells has a causal relationship. We only know the importance of ABL to 22q ~ - translocation in this reciprocal translocation but the relatively large number of chromosomes from translocation 22 to 9 is not associated with any known pathogenic consequences or changes in cell function . The authors report the 6th case of 22q-CML with no evidence of 22q-terminal entity translocations, however this patient was detected by Southern blot analysis of BCR rearrangements. This is the first case of such a BCR rearrangement without the 22q entity translocation. Female patient, age 49, previously healthy,