Botti A C, Silver R T, Macera M J, Benn P, Verma R S
Division of Hematology/Oncology, Long Island College Hospital, Brooklyn, NY 11201.
Cancer Genet Cytogenet. 1988 Oct 1;35(1):51-4. doi: 10.1016/0165-4608(88)90121-5.
A new case is presented displaying typical features of the stable phase of chronic myelogenous leukemia (CML), with a complex translocation involving chromosomes 8q and 9q. Cytogenetic evaluation revealed an abnormal karyotype, 46,XY,t(8;9)(q22;q34). Both chromosomes 22 were found to be cytogenetically normal. After molecular evaluation the cytogenetic diagnosis was revised to 46,XY,t(8;9;22)(q22;q34;q11). The importance of the chimeric abl/bcr gene fusion product in the pathogenesis of CML is suggested as a characteristic feature, even in some patients with a so-called Philadelphia (Ph) negative CML. Utilization of molecular probes in the evaluation of such cases must become a routine diagnostic procedure. Our patient received the potential benefit of Ph-positive directed therapy because of the present approach.
本文报告了1例慢性髓性白血病（CML）稳定期的典型病例，其涉及8号和9号染色体的复杂易位。细胞遗传学评估显示核型异常，为46,XY,t(8;9)(q22;q34)。发现两条22号染色体在细胞遗传学上均正常。分子评估后，细胞遗传学诊断修订为46,XY,t(8;9;22)(q22;q34;q11)。嵌合abl/bcr基因融合产物在CML发病机制中的重要性被认为是一个特征性表现，即使在一些所谓的费城（Ph）阴性CML患者中也是如此。在这类病例的评估中使用分子探针必须成为常规诊断程序。由于目前的方法，我们的患者接受了Ph阳性导向治疗的潜在益处。
