Case of cryptic TNIP1::PDGFRB rearrangement presenting with myelodysplastic syndrome achieved hematologic and cytogenetic remission with low-dose imatinib plus decitabine therapy

Shiqiang Qu; Yiru Yan; Chengwen Li; Zefeng Xu; Wenyu Cai; Tiejun Qin; Peihong Zhang; Yujiao Jia; Lijuan Pan; Qingyan Gao; Bing Li; Jinqin Liu; Meng Jiao; Zhijian Xiao

doi:10.1016/j.lrr.2023.100367

Case of cryptic TNIP1::PDGFRB rearrangement presenting with myelodysplastic syndrome achieved hematologic and cytogenetic remission with low-dose imatinib plus decitabine therapy

Leuk Res Rep. 2023 Mar 16:19:100367. doi: 10.1016/j.lrr.2023.100367. eCollection 2023.

Authors

Shiqiang Qu^{1

2}, Yiru Yan¹, Chengwen Li³, Zefeng Xu^{1

2}, Wenyu Cai³, Tiejun Qin², Peihong Zhang³, Yujiao Jia³, Lijuan Pan², Qingyan Gao², Bing Li^{1

2}, Jinqin Liu¹, Meng Jiao², Zhijian Xiao^{1

2

3}

Affiliations

¹ 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.
² MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
³ Hematologic Pathology Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.

Abstract

For a long time, FIP1L1::PDGFRA 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 PDGFRB. Here we report a case of myelodysplastic syndrome with severe thrombocytopenia. Conventional karyotype analysis revealed a t (5;19) (q33; p13.2) but no PDGFRB rearrangement was detected by the PDGFRB break-apart probe. The TNIP1::PDGFRB 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.

Keywords: Cryptic rearrangement; Decitabine; Imatinib; Myelodysplastic syndrome; TNIP1::PDGFRB.

Publication types

Case Reports