与库姆斯阴性急性溶血性贫血相关的组织细胞肉瘤：一种罕见表现
Histiocytic Sarcoma Associated with Coombs Negative Acute Hemolytic Anemia: A Rare Presentation.
作者信息
Batra Sandeep, Martin Stephen C, Nassiri Mehdi, Qureshi Amna, Markel Troy A
机构信息
Department of Pediatrics, Section of Pediatric Hematology and Oncology, Riley Hospital for Children at Indiana University Health, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
出版信息
Case Rep Oncol Med. 2016;2016:3179147. doi: 10.1155/2016/3179147. Epub 2016 Jun 26.
Histiocytic sarcoma (HS) rarely involves extranodal sites, such as the spleen. We report a unique pediatric case of massive splenomegaly and refractory Coombs negative hemolytic anemia (CNHA) secondary to HS. The CNHA resolved completely after an emergent splenectomy. Next generation sequencing (NGS) revealed novel ASXL1, PTPN11, KIT, and TP53 mutations, unmasking a clonal heterogeneity within the same neoplasm.
组织细胞肉瘤（HS）很少累及脾等结外部位。我们报告了一例独特的儿科病例，该病例因HS继发巨大脾肿大和难治性库姆斯阴性溶血性贫血（CNHA）。紧急脾切除术后CNHA完全缓解。二代测序（NGS）揭示了新的ASXL1、PTPN11、KIT和TP53突变，揭示了同一肿瘤内的克隆异质性。
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