Characterization of a patient with atypical amegakaryocytic thrombocytopenia
Characterization of a patient with atypical amegakaryocytic thrombocytopenia
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DOI：
10.1111/j.1600-0609.2008.01029.x
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发表时间：
2008-04-01
影响因子：
3.1
通讯作者：
Izuhara, Kenji
中科院分区：
文献类型：
--
作者：
Kanaji, Sachiko;Kanaji, Taisuke;Izuhara, Kenji
我们报告了一名患有无巨核细胞性血小板减少症的 6 岁女孩，这是这种罕见先天性疾病中第一例没有 MPL 基因突变的病例。尽管 MPL 中未发现突变，但血小板中不存在 Mpl 蛋白，并且未检测到 TPO 诱导的 Janus 酪氨酸激酶 2 (Jak2) 磷酸化。除了 Mpl 缺陷外，患者还表现出糖蛋白 VI (GPVI) 的表达显着降低，而其他血小板特异性蛋白 GPIb α、GPIb β 和 GPIIb 的表达正常。为了探究 Mpl 缺失的原因，对 Jak2 和 AML1 的整个编码区进行了测序，未发现任何突变。据我们所知，这是第一份描述非 MPL 突变引起的无巨核细胞血小板减少症病例的报告，并证明血小板上 GPVI 表达严重受损。
We report a 6-year-old girl with amegakaryocytic thrombocytopenia, the first case of this rare congenital disorder not to have an MPL gene mutation. Although no mutations were identified in MPL, Mpl protein was absent in the platelets and TPO induced phosphorylation of the Janus tyrosine kinase 2 (Jak2) was not detected. In addition to the defect of Mpl, the patient demonstrated markedly reduced expression of glycoprotein VI (GPVI) in contrast to normal expression of other platelet-specific proteins GPIb alpha, GPIb beta, and GPIIb. To explore the causes for the absence of Mpl, the entire coding resion of Jak2 and AML1 were sequenced and no mutations were identified. To our knowledge, this is the first report that describes a case of amegakaryocytic thrombocytopenia that is not caused by a mutation in MPL and demonstrates the severe impairment of GPVI expression on platelets.