Nakao K, Nishino M, Takeuchi K, Iwata M, Kawano A, Arai Y, Ohki M
Department of Internal Medicine, Okawa General Hospital, Kagawa.
Intern Med. 2000 May;39(5):412-5. doi: 10.2169/internalmedicine.39.412.
We report a 50-year-old man who developed therapy-related myelodysplastic syndrome after treatment with etoposide-including chemotherapy for extratesticular germ cell tumor. Chromosomal analysis showed inversion 11 (p15q22) translocation. Reverse transcriptase-polymerase chain reaction amplification of patient RNA showed a fusion transcript of nucleoporin gene NUP98, and putative DEAD-box RNA helicase gene DDX10. NUP98 is implicated in the transformation through aberrant nucleocytoplasmic transport. DDX10 is suggested to be involved in ribosome assembly. The NUP98-DDX10 fusion transcript may promote the development of secondary hematological malignancies caused by DNA-topoisomerase II inhibitors through aberrant nucleocytoplasmic transport and/or alteration in ribosome assembly.
我们报告了一名50岁男性，其在接受含依托泊苷的化疗治疗睾丸外生殖细胞肿瘤后发生了治疗相关的骨髓增生异常综合征。染色体分析显示11号染色体倒位（p15q22）易位。对患者RNA进行逆转录酶-聚合酶链反应扩增显示核孔蛋白基因NUP98与推定的DEAD盒RNA解旋酶基因DDX10的融合转录本。NUP98通过异常的核质转运参与细胞转化。提示DDX10参与核糖体组装。NUP98-DDX10融合转录本可能通过异常的核质转运和/或核糖体组装改变促进DNA拓扑异构酶II抑制剂引起的继发性血液系统恶性肿瘤的发生。
