儿童伴嗜酸粒细胞增多和PDGFRB基因重排的髓系肿瘤一例并文献复习

Pediatric myeloid neoplasms associated with eosinophilia and platelet-derived growth factor receptor beta gene rearrangement： a case report and literature review

目的 探讨儿童伴嗜酸粒细胞增多和PDGFRB基因重排的髓系肿瘤的临床特征和治疗策略.方法 对中国医学科学院血液病医院儿童血液病诊疗中心2015年5月诊治的1例伴嗜酸粒细胞增多和t（1;5）（q21;q33）染色体易位PDGFRB基因重排的髓系肿瘤患儿的临床资料进行分析.以“嗜酸粒细胞增多,儿童”“PDGFRB”“eosinophilia child”为关键词,对中国期刊全文数据库（CNKI）、万方数据知识服务平台、生物医学文献数据库（PubMed）建库至2017年4月收录的文献进行检索.结果 患儿男,1岁7月龄,生后6个月发病,以反复高热、腹泻、鼻衄、肝脾肿大为主要临床表现,血常规示白细胞（127×109/L）和嗜酸粒细胞（20.32× 109/L）明显增高,骨髓象示骨髓增生明显活跃,粒系比例增高,嗜酸粒细胞易见,巨核细胞减少.染色体核型t（1;5） （q21;q33）易位,荧光原位杂交检测PDGFRB基因重排阳性.予口服伊马替尼100mg,1次/d治疗2个月,患儿获血液学、细胞遗传学以及分子生物学缓解.经检索符合条件的中文文献0篇,临床资料完整的英文文献6篇.其中伴t（1;5）染色体易位文献4篇,共计6例患儿,4例予伊马替尼治疗均获得完全缓解.结论 伴嗜酸粒细胞增多和PDGFRB基因重排的髓系肿瘤儿童发病罕见,伊马替尼可使患儿迅速获得血液学、遗传学以及分子生物学缓解,为其首选治疗药物.

 Objective 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.Methods 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.Results 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× 109/L） and eosinophils（20.32× 109/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.Conclusion Myeloid neoplasms associated with eosinophilia and PDGFRB gene rearrangement is extremely rare in children.lmatinib 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.