González F A, Villegas A, Ferro M T, Cabello P, Morales D, Perez J, Martinez R
Servicio de Hematologia y Hemoterapia, Hospital Universitario de San Carlos, Madrid, Spain.
Br J Haematol. 1993 Jun;84(2):351-2. doi: 10.1111/j.1365-2141.1993.tb03081.x.
The introduction of molecular biological techniques in the study of chronic myeloid leukaemia (CML) allows us to show the bcr/abl gene rearrangement produced by the translocation between the c-abl proto-oncogene located in chromosome 9 and the bcr region located in chromosome 22, which constitutes the molecular alteration of Philadelphia chromosome in CML. We present the usefulness of the bcr/abl gene rearrangement study in the diagnosis of a blast crisis initially located in lymph nodes of a patient with CML. The DNA analysis allows demonstration that the lymph node neoplastic cells originate from the clone responsible for the CML, while obtaining metaphases from a lymph node for the cytogenetic study gives rise to enormous difficulties and is practically impossible if the problem is studied retrospectively based on frozen or fixed samples.
分子生物学技术引入慢性髓性白血病(CML)研究,使我们能够展示9号染色体上的c-abl原癌基因与22号染色体上的bcr区域易位产生的bcr/abl基因重排,这构成了CML中费城染色体的分子改变。我们展示了bcr/abl基因重排研究在诊断一名最初表现为淋巴结原始细胞危象的CML患者中的作用。DNA分析证实淋巴结肿瘤细胞起源于导致CML的克隆,而从淋巴结获取中期分裂相进行细胞遗传学研究困难重重,若基于冷冻或固定样本进行回顾性研究则几乎不可能。