Fugazza G, Bruzzone R, Puppo L, Sessarego M
Department of Internal Medicine, University of Genoa, Italy.
Cancer Genet Cytogenet. 1996 Sep;90(2):166-70. doi: 10.1016/s0165-4608(96)00088-x.
Previous reports suggested a correlation between the deletion of the terminal region of the short arm of a chromosome 17 and the appearance of dysgranulopoiesis in myeloproliferative disorders. Using the dual-color fluorescence in situ hybridization technique we analyzed the bone marrow and peripheral blood cells of a Philadelphia chromosome-positive chronic myeloid leukemia (CML) patient showing at the onset of transformation into blastic crisis both metaphases with the i(17q) as well as granulocytes without nuclear segmentation. This phenomenon is defined as pseudo-Pelger-Huët anomaly. Using two probes, one specific for 17p and one for 17q, we determined the presence or absence of the i(17q) in both metaphase and interphase cells. Moreover, we observed that all cells with a polysegmented nucleus typical of mature granulocytes did not have i(17q) but had two normal chromosomes 17. This observation confirmed the correlation between 17p deletion and the appearance of pseudo-Pelger anomaly. This finding may also be useful from a clinical point of view: the appearance of pseudo-Pelger cells in CML indicates that 17p deletion actually occurred. This event implies a negative prognosis.
先前的报告表明，17号染色体短臂末端区域的缺失与骨髓增殖性疾病中粒细胞生成异常的出现之间存在关联。我们使用双色荧光原位杂交技术，分析了一名费城染色体阳性慢性髓性白血病（CML）患者的骨髓和外周血细胞，该患者在向急变期转化开始时，既有出现i(17q)的中期相，也有未出现核分叶的粒细胞。这种现象被定义为假性Pelger-Huët异常。我们使用两种探针，一种针对17p，另一种针对17q，确定中期相和间期细胞中i(17q)的存在与否。此外，我们观察到，所有具有成熟粒细胞典型多叶核的细胞都没有i(17q)，而是有两条正常的17号染色体。这一观察结果证实了17p缺失与假性Pelger异常出现之间的关联。从临床角度来看，这一发现可能也有用：CML中假性Pelger细胞的出现表明实际上发生了17p缺失。这一事件意味着预后不良。
