Diagnosis, genetics, and management of inherited bone marrow failure syndromes.
Diagnosis, genetics, and management of inherited bone marrow failure syndromes.
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DOI：
10.1182/asheducation-2007.1.29
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发表时间：
2007-01-01
期刊：
影响因子：
--
通讯作者：
Alter, Blanche P
中科院分区：
文献类型：
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作者：
Alter, Blanche P
遗传性骨髓衰竭综合征传统上被认为是儿童疾病，但事实上，现在许多患者被诊断为成人，许多被诊断为儿童的患者现在活到了成年。这些罕见疾病中最常见的包括范可尼贫血、先天性角化不良症、Shwachman-Diamond综合征和无核细胞性血小板减少症，这些疾病经常发展为再生障碍性贫血，并可能演变为骨髓增生异常综合征和急性骨髓性白血病；和Diamond-Blackfan贫血，严重的先天性中性粒细胞减少症，以及缺失半径的血小板减少症，单个细胞减少症很少再生，但增加了白血病的风险。此外，前三种综合征发生实体瘤的风险较高：Fanconi贫血和先天性角化不良的头颈部和肛门生殖器鳞状细胞癌，Diamond-Blackfan贫血的成骨肉瘤。骨髓衰竭综合征的诊断需要识别出现的特征性身体异常，并在鉴别诊断出现“获得性”再生障碍性贫血、骨髓增生异常综合征、急性髓性白血病或综合征中所见的非典型早期癌症的患者时考虑这些疾病。最终的证据将来自与每种综合征相关的基因的致病突变的鉴定。
The inherited bone marrow failure syndromes are traditionally considered to be pediatric disorders, but in fact, many of the patients now are diagnosed as adults, and many diagnosed as children now live to reach adulthood. The most common of these rare disorders include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome and amegakaryocytic thrombocytopenia, which often develop aplastic anemia and may evolve into myelodysplastic syndrome and acute myeloid leukemia; and Diamond-Blackfan anemia, severe congenital neutropenia, and thrombocytopenia absent radii, single cytopenias that rarely if ever become aplastic but have increased risks of leukemia. In addition, the first three syndromes have high risks of solid tumors: head and neck and anogenital squamous cell carcinoma in Fanconi anemia and dyskeratosis congenita, and osteogenic sarcoma in Diamond-Blackfan anemia. Diagnosis of a marrow failure syndrome requires recognition of characteristic physical abnormalities when present, and consideration of these disorders in the differential diagnosis of patients who present with "acquired" aplastic anemia, myelodysplastic syndrome, acute myeloid leukemia, or atypically early cancers of the types seen in the syndromes. Ultimate proof will come from identification of pathogenic mutations in genes associated with each syndrome.