Abe Shori, Ishikawa Idumi, Harigae Hideo, Sugawara Tomohiro
Department of Rheumatology and Hematology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aobaku, Sendai, Japan.
Cancer Genet Cytogenet. 2008 Jul;184(1):44-7. doi: 10.1016/j.cancergencyto.2008.03.006.
Acute promyelocytic leukemia (APL) is associated with the t(15;17)(q22;q21) translocation which causes the fusion of the retinoic acid alpha gene (RARA) on 17q21 to the promyelocytic leukemia gene (PML) on 15q22. The two chimeric genes, PML/RARA and RARA/PML, are thought to play a role in leukemogenesis. A small proportion of patients with APL have complex or simple variants of this translocation. We report the case of a 22-year-old woman with APL carrying a complex variant translocation t(5;17;15)(q11;q12;q22) confirmed by G-banding, reverse transcription polymerase chain reaction (RT-PCR), fluorescence in situ hybridization(FISH), and spectral karyotyping analysis (SKY). The patient achieved complete remission with all-trans retinoic acid treatment and chemotherapy. These results illustrate the usefulness of combined analysis consisting of G-banding, RT-PCR, FISH, and SKY methods to identify the PML/RARA fusion gene in cases with variant t(15;17).
急性早幼粒细胞白血病（APL）与t(15;17)(q22;q21)易位相关，该易位导致17q21上的维甲酸α基因（RARA）与15q22上的早幼粒细胞白血病基因（PML）融合。两种嵌合基因，即PML/RARA和RARA/PML，被认为在白血病发生过程中起作用。一小部分APL患者具有这种易位的复杂或简单变体。我们报告了一名22岁APL女性患者的病例，其携带通过G显带、逆转录聚合酶链反应（RT-PCR）、荧光原位杂交（FISH）和光谱核型分析（SKY）确认的复杂变体易位t(5;17;15)(q11;q12;q22)。该患者通过全反式维甲酸治疗和化疗实现了完全缓解。这些结果说明了由G显带、RT-PCR、FISH和SKY方法组成的联合分析在鉴定具有变体t(15;17)病例中的PML/RARA融合基因方面的有用性。
