Yang Yanping, Lin Hai, Du Zhonghua, Hu Ruiping, Tang Yang, Liang Xinyue, Sun Jingnan, Tan Yehui
Department of Hematology, First Bethune Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Oncol Lett. 2020 May;19(5):3587-3592. doi: 10.3892/ol.2020.11455. Epub 2020 Mar 10.
The fusion product of FIP1-like-1 (FIP1L1) and platelet-derived growth factor receptor α (PDGFRA) gene rearrangement is a tyrosine kinase oncoprotein sensitive to imatinib. This gene rearrangement characterizes a novel clinico-biological class of myeloid and lymphoid neoplasms with eosinophilia and PDGFRA abnormalities. The DEK proto-oncogene (DEK) and nucleoporin 214 (NUP214) rearrangement is rare in patients with acute myeloid leukemia (AML); therefore, the coexistence of DEK-NUP214 and FIP1L1-PDGFRA rearrangements in patients with AML is extremely rare. The present study presents a rare relapse case of a patient with AML with DEK-NUP214 and FIP1L1-PDGFRA rearrangements, without marked eosinophilia in the peripheral blood or bone marrow. Low-dose imatinib monotherapy without intensive chemotherapy was used to achieve complete hematological remission.
FIP1样蛋白1（FIP1L1）与血小板衍生生长因子受体α（PDGFRA）基因重排的融合产物是一种对伊马替尼敏感的酪氨酸激酶癌蛋白。这种基因重排是具有嗜酸性粒细胞增多和PDGFRA异常的一类新型髓系和淋巴系肿瘤的临床生物学特征。DEK原癌基因（DEK）与核孔蛋白214（NUP214）重排在急性髓系白血病（AML）患者中罕见；因此，AML患者中DEK-NUP214与FIP1L1-PDGFRA重排同时存在极为罕见。本研究报告了1例罕见的复发AML患者，存在DEK-NUP214与FIP1L1-PDGFRA重排，外周血或骨髓中无明显嗜酸性粒细胞增多。采用低剂量伊马替尼单药治疗而非强化化疗实现了完全血液学缓解。
