Chen J S, Tzeng C C, Tsao C J, Su W C, Chen T Y, Jung Y C, Su I J
Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan.
Haematologica. 1997 Sep-Oct;82(5):572-6.
An EBV-associated hemophagocytic syndrome (HS) in previously healthy children or young adults has been documented in Taiwan. The exact nature of this syndrome, i.e., either an infectious process or a neoplastic disease, remains to be clarified.
Three patients diagnosed as having HS were studied retrospectively. Chromosomes from bone marrow were examined by a conventional trypsin-Giemsa banding technique and karyotyped at the beginning of diagnosis or during treatment. In situ hybridization studies for EBV using EBER1 were performed.
All three patients presented the classic manifestations of HS including fever, splenomegaly, jaundice, pancytopenia and coagulopathy. Bone marrow aspiration revealed atypical lymphocyte and histiocyte infiltration with hemophagocytosis. EBV genomes were found in bone marrow in all patients. In addition to normal mitotic cells, clonally karyotypically abnormal cells were demonstrated in all three patients whose diseases were rapidly progressive and eventually refractory to etoposide-based therapy. The consistent karyotypical abnormality of add(9)(p24) was noted in two of them.
Although HS is usually considered a reactive process, the emergence of clonal cytogenetic abnormalities should be considered a malignant entity and treated with more intensive chemotherapy. A large series of cytogenetic and molecular studies is needed to clarify the exact nature of this fatal disease.
台湾已报道在既往健康的儿童或青年中出现与EB病毒相关的噬血细胞综合征（HS）。该综合征的确切性质，即究竟是感染性过程还是肿瘤性疾病，仍有待阐明。
对3例诊断为HS的患者进行回顾性研究。采用传统的胰蛋白酶-吉姆萨显带技术检查骨髓染色体，并在诊断开始时或治疗期间进行核型分析。使用EBER1对EB病毒进行原位杂交研究。
所有3例患者均表现出HS的典型症状，包括发热、脾肿大、黄疸、全血细胞减少和凝血障碍。骨髓穿刺显示非典型淋巴细胞和组织细胞浸润并伴有噬血细胞现象。所有患者的骨髓中均发现EB病毒基因组。除正常有丝分裂细胞外，在所有3例疾病进展迅速且最终对依托泊苷治疗无效的患者中均发现了克隆性核型异常细胞。其中2例患者出现一致的核型异常add(9)(p24)。
尽管HS通常被认为是一种反应性过程，但克隆性细胞遗传学异常的出现应被视为恶性实体，并采用更强化的化疗进行治疗。需要进行大量的细胞遗传学和分子研究以阐明这种致命疾病的确切性质。
