[一名急性早幼粒细胞白血病患者的t(15;17)变异型，即ins(17;15)(q21;q14q22)的细胞遗传学和分子遗传学研究]
[Cytogenetic and molecular genetic studies on a variant of t(15;17), ins(17;15)(q21;q14q22), in an acute promyelocytic leukemia patient].
作者信息
Chen Su-ning, Xue Yong-quan, Wu Ya-fang, Pan Jin-lan
机构信息
First Affiliated Hospital of Suzhou University, Jiangsu Institute of Hematology, Suzhou Jiangsu, PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):77-9.
OBJECTIVE
To report a rare variant of t(15;17), ins(17;15)(q21;q14q22) in an acute promyelocytic leukemia (APL) patient and the results of cytogenetic and molecular genetic studies.
METHODS
Chromosomes were prepared after 24 hours culture of bone marrow cells and peripheral blood cells. R-banding technique was used to analyze karyotypes. Chromosome painting analysis was performed using whole chromosome paints for chromosomes 15 and 17. PML-RAR alpha and RAR alpha-PML fusion transcripts were detected by reverse transcription-polymerase chain reaction (RT-PCR).
RESULTS
Karyotypic analysis using both specimens from bone marrow and peripheral blood leukemic cells revealed 15q- and 17q+. Chromosome painting analysis confirmed that the karyotypic abnormality was ins(17;15). PML-RAR alpha fusion transcript (S type) was detected by RT-PCR, while RAR alpha-PML fusion transcript was not detected.
CONCLUSION
Chromosome painting and RT-PCR are reliable methods for characterization of the insertion involving chromosomes 15 and 17 in APL patients.
目的
报告1例急性早幼粒细胞白血病（APL）患者罕见的t(15;17)变异型，即ins(17;15)(q21;q14q22)，以及细胞遗传学和分子遗传学研究结果。
方法
对骨髓细胞和外周血细胞进行24小时培养后制备染色体。采用R显带技术分析核型。使用15号和17号染色体的全染色体涂染探针进行染色体涂染分析。通过逆转录聚合酶链反应（RT-PCR）检测PML-RARα和RARα-PML融合转录本。
结果
对骨髓和外周血白血病细胞标本进行核型分析，均显示15q-和17q+。染色体涂染分析证实核型异常为ins(17;15)。RT-PCR检测到PML-RARα融合转录本（S型），未检测到RARα-PML融合转录本。
结论
染色体涂染和RT-PCR是鉴定APL患者中涉及15号和17号染色体插入的可靠方法。
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