Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with fanconi anemia: morphologic and cytogenetic characteristics.
Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with fanconi anemia: morphologic and cytogenetic characteristics.
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DOI：
10.1309/ajcp7w9vmjenzovg
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发表时间：
2010-01
影响因子：
3.5
通讯作者：
Hirsch B
中科院分区：
文献类型：
--
作者：
Cioc AM;Wagner JE;MacMillan ML;DeFor T;Hirsch B
易患骨髓增生异常综合征 (MDS) 和急性白血病是范可尼贫血 (FA) 的标志。 FA 中 MDS 的形态学标准尚未明确，克隆染色体异常的意义也尚未明确。我们检查了 119 名 FA 患者的骨髓样本：23 名患者患有 MDS，这是最常见的难治性血细胞减少亚型伴多系发育不良。 MDS 的存在与克隆异常的存在高度相关。与红细胞生成障碍相反，中性粒细胞发育不良和原始细胞增加总是与克隆的存在相关。最常见的克隆增加了 1q 和 3q 和/或损失了 7 个。核型复杂性也与 MDS 相关。三分之一以 3q 为唯一异常的患者没有 MDS；具有 3q 和其他异常的患者均患有 MDS。这些数据为将细胞遗传学结果与独立评估的形态学结果相结合以监测 FA 中的骨髓状态提供了依据。
Predisposition to myelodysplastic syndrome (MDS) and acute leukemia is a hallmark of Fanconi anemia (FA). Morphologic criteria for MDS in FA are not well established, nor is the significance of clonal chromosomal abnormalities. We reviewed bone marrow samples of 119 FA patients: 23 had MDS, with the most common subtype refractory cytopenia with multilineage dysplasia. The presence of MDS was highly correlated with the presence of clonal abnormalities. Neutrophil dysplasia and increased blasts were always associated with the presence of a clone, in contrast with dyserythropoiesis. The most frequent clones had gains of 1q and 3q and/or loss of 7. Karyotype complexity also correlated with MDS. One third of patients with 3q as a sole abnormality had no MDS; patients with 3q and an additional abnormality all had MDS. The data provide a rationale for integrating cytogenetic findings with independently evaluated morphologic findings for monitoring bone marrow status in FA.