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我们是否需要像现在这样频繁地在骨髓增生异常综合征中进行荧光原位杂交分析?

Do we need to do fluorescence in situ hybridization analysis in myelodysplastic syndromes as often as we do?

机构信息

Hematopathology Section, Hospital Clínic, Villarroel 170, 08036 Barcelona, Catalonia, Spain.

出版信息

Leuk Res. 2010 Nov;34(11):1437-41. doi: 10.1016/j.leukres.2010.02.019. Epub 2010 Mar 11.

Abstract

Although conventional cytogenetics is considered the gold standard to detect chromosomal abnormalities in myelodysplastic syndromes (MDS), fluorescence in situ hybridization (FISH) is being increasingly used additionally. However, the real contribution of FISH analysis in the cytogenetic diagnosis of MDS has not been well defined. The aim of this study was to evaluate whether FISH studies are able to reveal chromosomal abnormalities in MDS patients undetected by conventional cytogenetics. One hundred seventy-four FISH studies were performed on bone marrow samples of 60 patients with MDS. The number of FISH studies in each patient was variable (1-5). FISH studies confirmed the G-banding cytogenetic findings in 99.4% (153/154) of samples and detected cytogenetic abnormalities in 25% (5/20) of cases in which the conventional cytognetic study failed. These results indicate that FISH studies provide relevant information in MSD in which the conventional cytogenetic analysis was unsuccessful but add little value to a normal katyotype in conventional cytogenetic analysis.

摘要

虽然传统细胞遗传学被认为是检测骨髓增生异常综合征(MDS)染色体异常的金标准,但荧光原位杂交(FISH)也越来越多地被应用。然而,FISH 分析在 MDS 细胞遗传学诊断中的实际贡献尚未得到明确界定。本研究旨在评估 FISH 研究是否能够揭示传统细胞遗传学未检测到的 MDS 患者的染色体异常。对 60 例 MDS 患者的骨髓样本进行了 174 项 FISH 研究。每位患者的 FISH 研究次数不同(1-5 次)。FISH 研究在 99.4%(153/154)的样本中证实了 G 带细胞遗传学发现,并在传统细胞遗传学研究失败的 20%(5/20)病例中检测到了细胞遗传学异常。这些结果表明,FISH 研究在传统细胞遗传学分析不成功的 MDS 中提供了相关信息,但对传统细胞遗传学分析中正常核型的价值不大。

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