Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy.
Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy.
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DOI：
10.1371/journal.pone.0138200
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Dianzani I
中科院分区：
文献类型：
--
作者：
Macrì S;Pavesi E;Crescitelli R;Aspesi A;Vizziello C;Botto C;Corti P;Quarello P;Notari P;Ramenghi U;Ellis SR;Dianzani I
Diamond-Blackfan贫血（DBA）是一种罕见的遗传性贫血，由13个核糖体蛋白基因中的一个杂合突变引起。骨髓（BM）中的红系祖细胞（BFU-E和CFU-E）表现为促凋亡表型。排除其他形式的脑梗死综合征后，可怀疑DBA。为了提高突变分析证实的DBA诊断，我们测试了一种基于差速离心从血浆中分离的细胞外囊泡（EVs）研究的新方法，并用流式细胞术对其进行分析。我们选择CD34、CD71和CD235a标记来研究红系EVs。我们对13例DBA患者、22例健康对照和16例其他血液病患者的EVs免疫表型进行了表征。在我们发现的三个ev集群中，只有CD34+/CD71low人群在DBA患者和对照组之间有统计学差异（p< 0.05）。该簇的缺失与DBA患者中发现的低水平BFU-E一致。ROC曲线的评估显示了该人群的潜在诊断价值。我们认为，作为一种更快、侵入性更小的替代BFU-E培养分析方法，该检测可能有助于提高DBA的诊断。
Diamond-Blackfan Anaemia (DBA) is a rare inherited anaemia caused by heterozygous mutations in one of 13 ribosomal protein genes. Erythroid progenitors (BFU-E and CFU-E) in bone marrow (BM) show a proapoptotic phenotype. Suspicion of DBA is reached after exclusion of other forms of BM failure syndromes. To improve DBA diagnosis, which is confirmed by mutation analysis, we tested a new approach based on the study of extracellular vesicles (EVs) isolated from plasma by differential centrifugations and analysed by flow cytometry. We chose CD34, CD71 and CD235a markers to study erythroid EVs. We characterised the EVs immunophentoypic profiles of 13 DBA patients, 22 healthy controls and 16 patients with other haematological diseases. Among the three EVs clusters we found, only the CD34+/CD71low population showed statistically significant differences between DBA patients and controls (p< 0.05). The absence of this cluster is in agreement with the low levels of BFU-E found in DBA patients. The assessment of ROC curves demonstrated the potential diagnostic value of this population. We suggest that this assay may be useful to improve DBA diagnosis as a quicker and less invasive alternative to BM BFU-E culture analysis.