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一例伴有复杂BCR/ABL重排及t(6;9)(p21;q34.1)的Ph阴性慢性髓性白血病

A Ph-negative chronic myeloid leukemia with a complex BCR/ABL rearrangement and a t(6;9)(p21;q34.1).

作者信息

Todorić-Zivanović Biljana, Marisavljević Dragomir, Surace Cecilia, Cemerikić Vesna, Marković Olivera, Krtolica Koviljka, Tatomirović Zeljka, Cikota Bojana, Magić Zvonko, Rocchi Mariano

机构信息

Military Medical Academy, Bezanijska Kosa, Belgrade, Serbia and Montenegro.

出版信息

Cancer Genet Cytogenet. 2006 Apr 15;166(2):180-5. doi: 10.1016/j.cancergencyto.2005.11.008.

DOI:10.1016/j.cancergencyto.2005.11.008
PMID:16631477
Abstract

Chronic myeloid leukemia (CML) is a clonal malignant disorder of a pluripotent hematopoetic stem cell characterized by the presence of the Philadelphia (Ph) chromosome in more than 90% of patients. Cryptic or "masked" BCR/ABL gene rearrangements may be found in cases with a normal karyotype and in cases with the complex karyotype, in which typical t(9;22) is not visible at the microscopic level. Those rearrangements can now be detected by fluorescence in situ hybridization. Here, we report on a novel and complex Ph chromosome-negative CML case with a t(6;9)(p21;q34.1) in which the BCR/ABL fusion gene is located at 6p21.

摘要

慢性髓性白血病(CML)是一种多能造血干细胞的克隆性恶性疾病,其特征是超过90%的患者存在费城(Ph)染色体。在核型正常的病例以及复杂核型的病例中可能会发现隐匿性或“隐匿的”BCR/ABL基因重排,在这些病例中,典型的t(9;22)在显微镜下不可见。现在可以通过荧光原位杂交检测到这些重排。在此,我们报告一例新型复杂的Ph染色体阴性CML病例,其具有t(6;9)(p21;q34.1),其中BCR/ABL融合基因位于6p21。

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