Chen Haoyue, Pan Jinlan, Yao Li, Wu Lingyu, Zhu Jianqin, Wang Wei, Liu Chunhua, Han Qiaoyan, Du Guibin, Cen Jiannong, Xue Yongquan, Wu Depei, Sun Miao, Chen Suning
Jingjiang People's Hospital, the Seventh Affiliated Hospital of Yangzhou University, Jiangsu Province, PR China.
Cancer Genet. 2012 Jun;205(6):327-31. doi: 10.1016/j.cancergen.2012.02.007.
Acute promyelocytic leukemia (APL) is characterized by the generation of the PML-RARα fusion transcript as a result of a reciprocal chromosomal rearrangement, t(15;17)(q22;q12), with breakpoints within the PML gene and the RARα gene. In a small proportion of APL cases, RARα is fused with a number of alternative partner genes. The signal transducer and activator of transcription 5 beta (STAT5b) is one of the variant partners. Here, we describe one rare case with all-trans retinoic acid (ATRA) -unresponsive APL characterized by the STAT5b-RARα fusion transcript. Morphology and immunophenotypic analyses indicated the typical features of APL; however, cytogenetic analysis exhibited a normal karyotype, and importantly, results of interphase fluorescence in situ hybridization (FISH) or reverse transcriptase-polymerase chain reaction (RT-PCR) analysis indicated that PML-RARα expression was negative. FISH analysis with the RARα dual-color break-apart rearrangement probe indicated a submicroscopic deletion of the 3' end of one RARA gene. Indeed, the STAT5b-RARα fusion transcript was found in this case by array-based comparative genomic hybridization and nested RT-PCR. To the best of our knowledge, we report here only the sixth APL patient in the world with the STAT5b-RARα fusion transcript. Additional clinical studies concerning the prognosis, response to therapy, and pathogenesis of APL patients with STAT5b-RARα fusion are necessary.
急性早幼粒细胞白血病（APL）的特征是由于15号和17号染色体相互易位t(15;17)(q22;q12)，导致早幼粒细胞白血病基因（PML）和维甲酸受体α基因（RARα）内的断点处产生PML-RARα融合转录本。在一小部分APL病例中，RARα与许多其他伙伴基因融合。信号转导和转录激活因子5β（STAT5b）是其中一个变异伙伴。在此，我们描述了一例罕见的对全反式维甲酸（ATRA）无反应的APL病例，其特征为STAT5b-RARα融合转录本。形态学和免疫表型分析显示出APL的典型特征；然而，细胞遗传学分析显示核型正常，重要的是，间期荧光原位杂交（FISH）或逆转录聚合酶链反应（RT-PCR）分析结果表明PML-RARα表达为阴性。使用RARα双色断裂分离重排探针进行的FISH分析表明一个RARA基因的3'端存在亚显微缺失。事实上，通过基于阵列的比较基因组杂交和巢式RT-PCR在该病例中发现了STAT5b-RARα融合转录本。据我们所知，我们在此报告的是世界上第六例具有STAT5b-RARα融合转录本的APL患者。有必要针对具有STAT5b-RARα融合的APL患者的预后、治疗反应和发病机制开展更多临床研究。
