The utility of fluorescence in situ hybridization analysis in diagnosing myelodysplastic syndromes is limited to cases with karyotype failure
The utility of fluorescence in situ hybridization analysis in diagnosing myelodysplastic syndromes is limited to cases with karyotype failure
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荧光原位杂交分析在诊断骨髓增生异常综合征中的用途仅限于核型失败的病例。
DOI：
10.1016/j.leukres.2011.10.014
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发表时间：
2012-04-01
影响因子：
2.7
通讯作者：
Chen, Suning
中科院分区：
文献类型：
--
作者：
Jiang, Hui;Xue, Yongquan;Chen, Suning
荧光原位杂交（FISH）越来越多地用于骨髓增生异常综合征（MDS）的细胞遗传学诊断。然而，FISH 在这一角色中的效用尚未明确。总共 249 名新发 MDS 患者接受了 -5/del(5)(q31)、-7/del(7)(q31)、+8、-17/i(17)(q10)、del(20)(q12) 和 -Y 的核型分析和 FISH 分析。在234例有核型数据的患者中，143例（60.9%）核型正常，91例（39.1%）核型异常。 FISH 在核型分析成功的样本中确认了 96.6% (226/234) 的 R 显带结果，并在核型分析失败的样本中检测到了 46.7% (7/15) 的细胞遗传学异常。在 3.4% (8/234) 的 FISH 和 R 显带差异患者中，FISH 显示 4 名正常核型患者和 4 名复杂核型患者存在细胞遗传学异常。这些结果强调 FISH 分析对于核型分析成功的 MDS 病例价值有限，并且仅对于核型分析失败的 MDS 病例提供信息。 (C) 2011 Elsevier Ltd. 保留所有权利。
Fluorescence in situ hybridization (FISH) is being used increasingly in cytogenetic diagnosis of myelodysplastic syndromes (MDS). However, the utility of FISH in this role has not been well-defined. A total of 249 de novo MDS patients were submitted to karyotyping and FISH analysis for -5/del(5)(q31), -7/del(7)(q31), +8, -17/i(17)(q10), del(20)(q12), and -Y. Of the 234 patients with available karyotypic data, 143 cases (60.9%) demonstrated normal karyotype and 91 cases (39.1%) showed abnormal karyotype. FISH confirmed R-banding findings in 96.6% (226/234) of samples with successful karyotyping and detected cytogenetic abnormalities in 46.7% (7/15) of cases with karyotype failure. Of the 3.4% (8/234) patients showing discrepancies between FISH and R-banding, FISH revealed cytogenetic abnormalities in four patients with normal karyotypes and four patients with complex karyotypes. These results highlight FISH analysis has limited value in MDS cases with successful karyotyping and is only informative in MDS cases with karyotype failure. (C) 2011 Elsevier Ltd. All rights reserved.