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双色荧光原位杂交在伴t(8;21)急性髓系白血病中的应用

[Application of dual-color fluorescence in situ hybridization in acute myeloid leukemia with t (8; 21)].

作者信息

Li Cheng-wen, Bo Li-jin, Dai Yun, Liu Xu-ping, Qin Shuang, Liu Shi-he, Wang Jian-xiang

机构信息

Institute of Hematology and Blood Disease Hospital, CAMS and PUMC, Tianjin 300020, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2006 Jan;27(1):32-5.

Abstract

OBJECTIVE

To investigate the utilities of dual-color fluorescence in situ hybridization (FISH) in diagnosis and monitor of treatment in acute myeloid leukemia (AML) with t (8; 21).

METHODS

Seventy patients having FISH results were divided into two groups: untreated and treated group. Comparative analysis was performed between the results of conventional cytogenetic analysis (CCA) and FISH analysis, and in some of them, between FISH and reverse transcriptase polymerase chain reaction (RT-PCR) results. A successive FISH following R-banding was carried out in those with cytogenetic undetermined cases.

RESULTS

In untreated group, 30/42 cases of t (8; 21) AML were positive for AML1/ETO in FISH assay. Three cases were positive for AML/ETO by FISH although two of them lacked t (8; 21) by CCA and one negative for AML1/ETO by RT-PCR. Six cases with complex karyotype abnormalities were confirmed to be AML1/ETO positive by the successive R-banding and FISH assay, and the involved genes were clearly visualized in FISH image. In the treated group, there were 28 cases of t (8; 21) AML diagnosed. Three cases without t (8; 21) by CCA were positive by FISH. Two patients were detected relapse earlier by FISH.

CONCLUSION

The dual-color FISH technique is a much more sensitive and accurate approach to the diagnosis of t (8; 21) AML and minimal residual disease (MRD) monitoring. It can also provide precise mapping of fusion signals in complex karyotype.

摘要

目的

探讨双色荧光原位杂交(FISH)技术在伴t(8;21)急性髓系白血病(AML)诊断及治疗监测中的应用价值。

方法

将70例有FISH检测结果的患者分为未治疗组和治疗组。对常规细胞遗传学分析(CCA)与FISH分析结果进行比较分析,部分患者还对FISH与逆转录聚合酶链反应(RT-PCR)结果进行比较。对细胞遗传学结果未明确的病例进行R显带后连续FISH检测。

结果

未治疗组中,42例t(8;21)AML患者中30例FISH检测AML1/ETO阳性。3例FISH检测AML/ETO阳性,其中2例CCA检测缺乏t(8;21),1例RT-PCR检测AML1/ETO阴性。6例核型复杂异常患者经连续R显带和FISH检测确诊为AML1/ETO阳性,FISH图像中可见相关基因清晰显示。治疗组中,诊断为t(8;21)AML的有28例。3例CCA检测无t(8;21)的患者FISH检测阳性。2例患者FISH检测更早发现复发。

结论

双色FISH技术是诊断t(8;21)AML及监测微小残留病(MRD)更敏感、准确的方法。它还能对复杂核型中的融合信号进行精确定位。

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