Qu Shiqiang, Yan Yiru, Li Chengwen, Xu Zefeng, Cai Wenyu, Qin Tiejun, Zhang Peihong, Jia Yujiao, Pan Lijuan, Gao Qingyan, Li Bing, Liu Jinqin, Jiao Meng, Xiao Zhijian
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
Leuk Res Rep. 2023 Mar 16;19:100367. doi: 10.1016/j.lrr.2023.100367. eCollection 2023.
For a long time, fusion seems to be the only cryptic rearrangement of myeloid/lymphoid neoplasm with tyrosine kinase gene fusions. Recently, with the wide application of RNA sequencing, more cryptic rearrangements of other TK genes have been identified, especially the . Here we report a case of myelodysplastic syndrome with severe thrombocytopenia. Conventional karyotype analysis revealed a t (5;19) (q33; p13.2) but no rearrangement was detected by the break-apart probe. The fusion was eventually found by RNA sequencing, leading us to treat with low-dose imatinib plus decitabine, and the patient achieved hematologic improvement and cytogenetic remission.
长期以来，融合似乎是髓系/淋巴系肿瘤伴酪氨酸激酶基因融合的唯一隐匿性重排。最近，随着RNA测序的广泛应用，已鉴定出其他酪氨酸激酶（TK）基因的更多隐匿性重排，尤其是……。在此，我们报告1例伴有严重血小板减少的骨髓增生异常综合征病例。常规核型分析显示t（5；19）（q33；p13.2），但使用断裂分离探针未检测到……重排。最终通过RNA测序发现了……融合，促使我们采用低剂量伊马替尼联合地西他滨进行治疗，该患者获得了血液学改善和细胞遗传学缓解。
