Zhang X Y, Liu T F, Li C W, Li Q H, Zhu X F
Center for Pediatric Blood Disease, State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
Zhonghua Er Ke Za Zhi. 2018 Jan 2;56(1):34-38. doi: 10.3760/cma.j.issn.0578-1310.2018.01.009.
To investigate the clinical features and therapeutic strategies of childhood myeloid neoplasms associated with eosinophilia and platelet-derived growth factor receptor beta (PDGFRB) gene rearrangement. Clinical data of myeloid neoplasms associated with eosinophilia and t (1;5) (q21;q33) chromosomal translocation of PDGFRB gene rearrangement in a child hospitalized in Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences on May 2015 was collected and analyzed. Using'eosinophilia child'and'PDGFRB'as keywords, the relevant reports in literature were searched from China National Knowledge Infrastructure (CNKI), Wanfang Data Knowledge Service Platform, and Biomedical Literature Database (PubMed) until April 2017. The patient was a boy, 19 months old, who began to get sick at six months after birth, with the main clinical manifestations of high fever, diarrhea, epistaxis and hepatosplenomegaly. Peripheral blood smear showed a significant elevation in white blood cells (127×10(9)/L) and eosinophils(20.32×10(9)/L). Bone marrow examination showed hyperplastic marrow, increased proportion of granulocytes, apparent visible eosinophils and decreased megakaryocytes. Chromosome karyotype detection revealed t (1; 5) (q21; q33) translocation. Fluorescence in situ hybridization (FISH) examination uncovered that PDGFRB gene rearrangement was positive. The final diagnosis was myeloid neoplasms with eosinophilia and PDGFRB gene rearrangement. After treatment with oral imatinib 100 mg, once a day for 2 months, complete hematologic remission, complete cytogenetic and molecular remission were all achieved. The relevant literature was reviewed, no Chinese cases had been reported, 6 reports in English literature have complete clinical data. Four cases had t (1; 5) translocation. Four pediatric patients treated with imatinib achieved complete remission. Myeloid neoplasms associated with eosinophilia and PDGFRB gene rearrangement is extremely rare in children. Imatinib treatment can make these patients quickly achieve complete hematologic remission, complete cytogenetic and molecular remission. Imatinib should be recommended as the first line treatment of these patients.
探讨儿童嗜酸性粒细胞增多与血小板衍生生长因子受体β（PDGFRB）基因重排相关的髓系肿瘤的临床特征及治疗策略。收集并分析2015年5月在中国医学科学院血液病医院住院的1例儿童嗜酸性粒细胞增多与PDGFRB基因重排的t（1；5）（q21；q33）染色体易位相关髓系肿瘤的临床资料。以“嗜酸性粒细胞增多儿童”和“PDGFRB”为关键词，在中国知网、万方数据知识服务平台及生物医学文献数据库（PubMed）检索截至2017年4月的相关文献报道。该患者为19个月男童，自出生后6个月起病，主要临床表现为高热、腹泻、鼻出血及肝脾肿大。外周血涂片显示白细胞（127×10⁹/L）及嗜酸性粒细胞（20.32×10⁹/L）显著升高。骨髓检查显示骨髓增生，粒细胞比例增加，可见明显嗜酸性粒细胞，巨核细胞减少。染色体核型检测显示t（1；5）（q21；q33）易位。荧光原位杂交（FISH）检查发现PDGFRB基因重排阳性。最终诊断为嗜酸性粒细胞增多与PDGFRB基因重排相关的髓系肿瘤。口服伊马替尼100mg，每日1次，治疗2个月后，达到完全血液学缓解、完全细胞遗传学缓解及分子学缓解。复习相关文献，国内无病例报道，英文文献有6篇报道有完整临床资料。4例有t（1；5）易位。4例接受伊马替尼治疗的儿童患者均达到完全缓解。嗜酸性粒细胞增多与PDGFRB基因重排相关的髓系肿瘤在儿童中极为罕见。伊马替尼治疗可使这些患者迅速达到完全血液学缓解、完全细胞遗传学缓解及分子学缓解。伊马替尼应推荐作为这些患者的一线治疗药物。
