Acquired homozygosity of the rearranged bcr allele during the acute leukemic phase of a patient with Ph-negative chronic myeloid leukemia.
Acquired homozygosity of the rearranged bcr allele during the acute leukemic phase of a patient with Ph-negative chronic myeloid leukemia.
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在 Ph 阴性慢性粒细胞白血病患者的急性白血病阶段获得了重排的 bcr 等位基因的纯合性。
作者：
A. Reeve;C. Morris;P. H. Fitzgerald
一名45岁男性慢性髓性白血病（CML） ph阴性患者在诊断为白血病时，在Southern blot研究中发现bcr-3‘和bcr-5’基因区域重排。在末胚危机的发展过程中，连续的血液样本显示胚系bcr DNA的数量逐渐减少，并在全胚危机中完全丧失。与获得性纯合性一致的bcr DNA重排量也有所增加。用IgV lambda探针获得了类似的结果，并表明22号染色体的显著部分是纯合的。bcr-abl基因复合体在CML中表现为体细胞显性，我们认为其获得性纯合性是bcr-abl扩增的机制，类似于CML母细胞危象中常见的Ph染色体复制。
A 45-year-old male patient with Ph-negative chronic myeloid leukemia (CML) had rearranged bcr-3' and bcr-5' gene regions in Southern blot studies when leukemia was diagnosed. During development of terminal blast crisis, successive blood samples showed a progressive decrease in the amount of germline bcr DNA and its complete loss by full blast crisis. There were also increased amounts of rearranged bcr DNA consistent with acquired homozygosity. A similar result was obtained with an IgV lambda probe and indicated homozygosity of a significant part of chromosome 22. The bcr-abl gene complex behaves as a somatic dominant in CML, and we suggest that its acquired homozygosity is a mechanism of bcr-abl amplification similar to duplication of the Ph chromosome commonly found in the blast crisis of CML.