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急性白血病细胞遗传学:G带核型分析与多色光谱核型分析联合应用的评估

Acute leukemia cytogenetics: an evaluation of combining G-band karyotyping with multi-color spectral karyotyping.

作者信息

Kerndrup G B, Kjeldsen E

机构信息

Department of Pathology, Chromosome Laboratory, Odense University Hospital, Odense, Denmark.

出版信息

Cancer Genet Cytogenet. 2001 Jan 1;124(1):7-11. doi: 10.1016/s0165-4608(99)00223-x.

Abstract

We have, during a 12-month period, evaluated the adjuvant effect of combining G-band karyotyping and multi-color spectral karyotyping (SKY) in acute leukemia patients. Forty-four cases were evaluated; fewer cases than those routinely analyzed by G-band cytogenetics had mitoses left for SKY analysis. Of the 44 patients, 35 were acute myeloid leukemia (AML) and 9 acute lymphatic leukemia (ALL) cases. Twenty-seven of 35 AML and 7 of 9 ALL patients had an abnormal G-band karyotype. Thirteen of these 34 abnormal cases had a simple clonal chromosome aberration, and the remaining 21 cases had a complex karyotype. The SKY confirmed the simple karyotype in 11 and in 7 with a complex karyotype. In 13 of the cases with a complex karyotype, ambiguous structural aberrations were classified, in 6 of these, SKY disclosed cryptic translocations. Thus, SKY either extended or confirmed G-band karyotypes in 31 of 34 analyzed abnormal cases. Cases where SKY did not reveal the abnormal clone showed only few abnormal mitoses by G-banding (2/23, 2/25, and 4/27). Additional or confirmatory information was therefore obtained in 91% of analyzed cases, and SKY proved to be a valuable additional tool for hematologic cytogenetics.

摘要

在12个月的时间里,我们评估了联合应用G带核型分析和多色光谱核型分析(SKY)对急性白血病患者的辅助诊断作用。共评估了44例患者;与常规G带细胞遗传学分析的病例相比,用于SKY分析的有丝分裂细胞较少。44例患者中,35例为急性髓系白血病(AML),9例为急性淋巴细胞白血病(ALL)。35例AML患者中有27例、9例ALL患者中有7例G带核型异常。这34例核型异常的病例中,13例为简单克隆性染色体畸变,其余21例为复杂核型。SKY证实了11例简单核型和7例复杂核型。在13例复杂核型病例中,对不明确的结构畸变进行了分类,其中6例SKY检测到隐匿性易位。因此,在34例分析的异常病例中,有31例SKY扩展或证实了G带核型。SKY未显示异常克隆的病例,G带分析仅发现少数异常有丝分裂细胞(2/23、2/25和4/27)。因此,在91%的分析病例中获得了额外的或证实性的信息,SKY被证明是血液学细胞遗传学中有价值的辅助工具。

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