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9号染色体衍生染色体上ABL/BCR缺失与严重嗜碱性粒细胞增多相关。

Deletion of ABL/BCR on der(9) associated with severe basophilia.

作者信息

Vaidya Shantashri, Madkaikar Manisha, Ghosh Kanjaksha, Vundinti Babu Rao

机构信息

Department of Cytogenetics, National Institute of Immunohaematology (ICMR), K.E.M. Hospital Campus, Parel, Mumbai, India.

出版信息

Indian J Hum Genet. 2011 May;17(2):100-3. doi: 10.4103/0971-6866.86198.

Abstract

Chronic basophilic leukemia is a rare form in chronic myeloid leukemia patients. Only limited number of reports are available. Herein, we describe a patient who presented with fatigue, weight loss, leucocytosis, prominent basophilia, and mild eosinophilia. On biopsy, bone marrow was hypercellular with marked basophils. The immunophenotype showed abnormal expression of CD7, which is suggestive of basophilic maturation. Chromosomal analysis from GTG-banded metaphases revealed Ph positivity, and fluorescence in situ hybridization (FISH) with BCR/ABL dual color, dual fusion probe showed single fusion on the der(22) chromosome and ABL/BCR fusion was deleted on the der(9) chromosome. The deletion (ABL/BCR) on der(9) may be associated with basophilia which may be also indicative of the transformation of CML to acute myeloid leukemia.

摘要

慢性嗜碱性粒细胞白血病是慢性髓系白血病患者中的一种罕见类型。仅有数量有限的报告。在此,我们描述一名出现疲劳、体重减轻、白细胞增多、显著嗜碱性粒细胞增多和轻度嗜酸性粒细胞增多的患者。活检时,骨髓细胞增多,有明显的嗜碱性粒细胞。免疫表型显示CD7异常表达,提示嗜碱性粒细胞成熟。来自GTG带型中期染色体的分析显示Ph阳性,并且使用BCR/ABL双色双融合探针的荧光原位杂交(FISH)显示在der(22)染色体上有单一融合,而在der(9)染色体上ABL/BCR融合缺失。der(9)上的缺失(ABL/BCR)可能与嗜碱性粒细胞增多有关,这也可能表明慢性髓系白血病向急性髓系白血病转化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9290/3214311/c1883c546c6c/IJHG-17-100-g001.jpg

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