Weyand Angela C, Yanik Gregory A, Bailey Nathanael G, Wu Yi-Mi, Mody Rajen J, Castle Valerie P
Division of Pediatric Hematology and Oncology, Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor, Michigan.
Department of Pathology, University of Michigan Medical Center, Ann Arbor, Michigan.
Pediatr Blood Cancer. 2016 Jan;63(1):164-7. doi: 10.1002/pbc.25702. Epub 2015 Aug 8.
We report a 4-year-old female who presented with severe hypereosinophilia (215.7 K/μl) and end-organ dysfunction. Extensive evaluation including whole exome sequencing was performed, revealing no causative mutation. Initial treatment with corticosteroids, leukapheresis, and hydroxyurea decreased her absolute eosinophil count (AEC), although it remained elevated. Despite the absence of a PDGFRA mutation, an imatinib trial resulted in normalization of her AEC. Imatinib was discontinued after sustained normal counts for 1 month. AECs have remained normal for more than 1 year off therapy. This provides support for consideration of imatinib in the treatment of hypereosinophilia even in the absence of a known tyrosine kinase mutation.
我们报告了一名4岁女性，她表现为严重嗜酸性粒细胞增多（215.7 K/μl）和终末器官功能障碍。进行了包括全外显子组测序在内的广泛评估，未发现致病突变。最初使用皮质类固醇、白细胞单采术和羟基脲进行治疗，降低了她的绝对嗜酸性粒细胞计数（AEC），尽管该计数仍处于升高状态。尽管未检测到PDGFRA突变，但伊马替尼试验使她的AEC恢复正常。在连续正常计数1个月后停用伊马替尼。停药后AEC保持正常超过1年。这为即使在没有已知酪氨酸激酶突变的情况下，考虑使用伊马替尼治疗嗜酸性粒细胞增多症提供了支持。
