Iwafuchi Hideto
J Clin Exp Hematop. 2018;58(2):68-86. doi: 10.3960/jslrt.18018.
Bone marrow failure (BMF) is a rare but life-threatening disorder that usually manifests as (pan)cytopenia. BMF can be caused by a variety of diseases, but inherited BMF (IBMF) syndromes are a clinically important cause, especially in children. IBMF syndromes are a heterogeneous group of genetic disorders characterized by BMF, physical abnormalities, and predisposition to malignancy. An accurate diagnosis is critical, as disease-specific management, surveillance, and genetic counselling are required for each patient. The major differential diagnoses of IBMF syndromes are acquired aplastic anemia (AA) and refractory cytopenia of childhood (RCC). These diseases have overlapping features, such as BM hypocellularity and/or dysplastic changes, which make the differential diagnosis challenging. RCC has been defined as a histomorphologically distinct entity. Therefore, understanding the BM histopathology of these diseases is essential for the differential diagnosis. However, the BM histopathological features have not been characterized in detail, as descriptions of BM histopathology are very limited due to the rarity of the diseases. This review provides a detailed description of the BM histopathology in cases of RCC, AA, and the four most common IBMF syndromes: Fanconi anemia (FA), dysketatosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS). An overview, including the clinical features and diagnosis, is also provided.
骨髓衰竭（BMF）是一种罕见但危及生命的疾病，通常表现为（全）血细胞减少。BMF可由多种疾病引起，但遗传性BMF（IBMF）综合征是一个重要的临床病因，尤其是在儿童中。IBMF综合征是一组异质性的遗传疾病，其特征为BMF、身体异常和易患恶性肿瘤。准确的诊断至关重要，因为每个患者都需要针对疾病的管理、监测和遗传咨询。IBMF综合征的主要鉴别诊断包括获得性再生障碍性贫血（AA）和儿童难治性血细胞减少症（RCC）。这些疾病具有重叠的特征，如骨髓细胞减少和/或发育异常改变，这使得鉴别诊断具有挑战性。RCC已被定义为一种组织形态学上独特的实体。因此，了解这些疾病的骨髓组织病理学对于鉴别诊断至关重要。然而，由于这些疾病罕见，骨髓组织病理学的描述非常有限，其骨髓组织病理学特征尚未得到详细描述。本综述详细描述了RCC、AA以及四种最常见的IBMF综合征（范可尼贫血（FA）、先天性角化不良（DC）、先天性纯红细胞再生障碍性贫血（DBA）和施-戴综合征（SDS））病例的骨髓组织病理学。还提供了包括临床特征和诊断在内的概述。
