Chen Meiyu, Wang Kai, Cai Xiaohui, Zhang Xiuwen, Chao Hongying, Chen Suning, Shen Hongjie, Wang Qian, Zhang Ri
Department of Hematology, Affiliated Changzhou Second Hospital of Nanjing Medical University, Changzhou, Jiangsu, People's Republic of China.
Department of Hematology, The First Affiliated Hospital of Suzhou University, Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Suzhou, People's Republic of China.
Hematology. 2021 Dec;26(1):153-159. doi: 10.1080/16078454.2020.1854493.
The 8p11 myeloproliferative syndrome (EMS) is an extremely rare, generally aggressive haematologic malignancies. This study provided the clinical outcomes and therapeutic strategies for EMS patients confirmed with CEP110-FGFR1 fusion. We report here a case of translocation (8;9) (p12;q33)/CEP110-FGFR1 who received allo-HSCT and achieved molecular remission. We searched the PubMed database for relevant medical literatures published between 1992 and 2018. We generalized the laboratory results, clinical features, therapeutic outcomes for EMS with confirmed CEP110-FGFR1 fusion. We identified 16 EMS cases with CEP110-FGFR1 fusions including our patient. The observed common syndrome features were characterized as follows: a male predominance, fatigue (35.7%), tonsil hypertrophy (41.7%), lymphadenopathy (53.8%), hepatosplenomegaly (54.5%). leukocytosis (greater than 20.0 × 10/L, 71.4%), coexisting of eosinophilia and monocytosis (93.3%), and frequent progression to acute leukaemia. High incidence of tonsil hypertrophy and monocytosis may be a feature of EMS with CEP110/FGFR1 fusions. The CR rate for EMS was 23.1%. One patient treated with highly selective FGFR kinase inhibitor, INCB054828, achieved complete molecular remission rapidly. Allo-HSCT was performed in 8 patients. The median survival time for those patients was 9.0 (95%CI 5.599-12.601) months, with a range between 5 and 27 months. Allogeneic HSCT could improve survival in selected patients. FGFR1 and RUNX1 may be potential therapeutic targets for clinical trials. More accumulation of cases is also needed to determine whether allo-HSCT could be an optimal approach.
8p11骨髓增殖综合征（EMS）是一种极其罕见、通常具有侵袭性的血液系统恶性肿瘤。本研究提供了经CEP110-FGFR1融合确诊的EMS患者的临床结局和治疗策略。我们在此报告一例发生易位（8；9）（p12；q33）/CEP110-FGFR1的患者，其接受了异基因造血干细胞移植并实现了分子缓解。我们在PubMed数据库中检索了1992年至2018年间发表的相关医学文献。我们归纳了经CEP110-FGFR1融合确诊的EMS的实验室检查结果、临床特征和治疗结局。我们确定了16例包括我们的患者在内的具有CEP110-FGFR1融合的EMS病例。观察到的常见综合征特征如下：男性居多、疲劳（35.7%）、扁桃体肥大（41.7%）、淋巴结病（53.8%）、肝脾肿大（54.5%）、白细胞增多（大于20.0×10⁹/L，71.4%）、嗜酸性粒细胞增多和单核细胞增多并存（93.3%），以及频繁进展为急性白血病。扁桃体肥大和单核细胞增多的高发生率可能是具有CEP110/FGFR1融合的EMS的一个特征。EMS的完全缓解率为23.1%。一名接受高选择性FGFR激酶抑制剂INCB054828治疗的患者迅速实现了完全分子缓解。8例患者接受了异基因造血干细胞移植。这些患者的中位生存时间为9.0（95%CI 5.599-12.601）个月，范围为5至27个月。异基因造血干细胞移植可改善部分患者的生存。FGFR1和RUNX1可能是临床试验的潜在治疗靶点。还需要更多病例积累以确定异基因造血干细胞移植是否可能是一种最佳方法。
