Ito Masafumi
Department of Pathology, Japanese Red Cross Nagoya First Hospital.
Rinsho Ketsueki. 2017;58(6):661-668. doi: 10.11406/rinketsu.58.661.
Refractory cytopenia of childhood (RCC) was proposed as a provisional entity in the 2008 WHO classification of myelodysplastic syndromes (MDS). It is defined as a childhood MDS featuring persistent cytopenia without increase blasts in bone marrow (BM) or peripheral blood (PB). Because the majority of RCC cases feature hypocellularity and pancytopenia, it is quite challenging to differentiate RCC from acquired aplastic anemia (AA) and many kinds of inherited bone marrow failure syndromes (IBMFS). Diagnosis of RCC requires BM histology of characteristic features such as isolated erythroid islet with left shift, abnormal localization and micromegakaryocytes. The Japanese Society of Pediatric Hematology/Oncology has opened the central registry review system since 2009 to evaluate childhood cases of bone marrow failure (BMF). It has reviewed cytology and BM pathology of all registered BMF cases, which number more than 1,700. In the evaluation of BMF, BM pathology is important to assess the mechanism of hematopoiesis. Pathological dysplasia should be differentiated from cytological dysplasia. A central review system is important for rare diseases, such as pediatric BMF. Standardization of pathological diagnosis should be established upon consensus findings, descriptions, and diagnostic approaches. In this review, the pathology of pediatric BMF syndromes is summarized.
儿童难治性血细胞减少症（RCC）在2008年世界卫生组织（WHO）骨髓增生异常综合征（MDS）分类中被提议作为一个暂定实体。它被定义为一种儿童MDS，其特征为持续性血细胞减少，骨髓（BM）或外周血（PB）中原始细胞无增加。由于大多数RCC病例具有细胞减少和全血细胞减少的特征，因此将RCC与获得性再生障碍性贫血（AA）及多种遗传性骨髓衰竭综合征（IBMFS）区分开来颇具挑战性。RCC的诊断需要具有特征性表现的骨髓组织学检查，如左移的孤立红系岛、异常定位和小巨核细胞。自2009年以来，日本儿科学血液学/肿瘤学会开启了中央登记审查系统，以评估儿童骨髓衰竭（BMF）病例。该系统审查了所有登记的BMF病例（超过1700例）的细胞学和骨髓病理学。在BMF评估中，骨髓病理学对于评估造血机制很重要。病理发育异常应与细胞学发育异常区分开来。中央审查系统对于儿科BMF等罕见疾病很重要。应根据共识性的发现、描述和诊断方法建立病理诊断的标准化。在本综述中，总结了儿科BMF综合征的病理学。
