急性早幼粒细胞白血病中的一种新的三向变异t(15;22;17)(q22;q11.2;q21)
A new three-way variant t(15;22;17)(q22;q11.2;q21) in acute promyelocytic leukemia.
作者信息
Kato Takayasu, Hangaishi Akira, Ichikawa Motoshi, Motokura Toru, Takahashi Tsuyoshi, Kurokawa Mineo
机构信息
Department of Hematology and Oncology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
出版信息
Int J Hematol. 2009 Mar;89(2):204-208. doi: 10.1007/s12185-008-0253-6. Epub 2009 Feb 4.
Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), which results in the fusion of the promyelocytic leukemia (PML) gene at 15q22 with the retinoic acid alpha-receptor (RARA) at 17q21. We report the case of a 44-year-old man with APL carrying a new complex variant translocation (15;22;17). Karyotypic analysis with G-banding of bone marrow cells revealed t(15;22;17) (q22;q11.2;q21). Fluorescence in situ hybridization with a PML/RARA dual-color DNA probe showed the fusion signals. RT-PCR analysis showed long-form PML/RARA fusion transcripts. A complete remission was attained with a course of conventional chemotherapy with all-trans retinoic acid (ATRA). This is the first report of a new three-way translocation of 22q11 involvement with APL.
急性早幼粒细胞白血病（APL）的特征是t(15;17)(q22;q21)，这导致位于15q22的早幼粒细胞白血病（PML）基因与位于17q21的维甲酸α受体（RARA）融合。我们报告了一例携带新的复杂变异易位（15;22;17）的44岁APL男性病例。对骨髓细胞进行G显带核型分析显示t(15;22;17) (q22;q11.2;q21)。使用PML/RARA双色DNA探针进行荧光原位杂交显示了融合信号。逆转录聚合酶链反应（RT-PCR）分析显示存在长形式的PML/RARA融合转录本。通过全反式维甲酸（ATRA）进行的常规化疗疗程实现了完全缓解。这是首例涉及22q11的新的三向易位与APL相关的报告。
Zotero 插件