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Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome

机译：5例灰色血小板综合征的巨核细胞性心电图和血小板功能异常

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The gray platelet syndrome (GPS) is a rare congenital platelet disorder characterized by mild to moderate bleeding diathesis, macrothrombocytopenia and lack of azurophilic a-granules in platelets. Some platelet and megakaryocyte (MK) abnormalities have been described, but confirmative studies of the defects in larger patient cohorts have not been undertaken. We studied platelet function and bone marrow (BM) features in five GPS patients with NBEAL2 autosomal recessive mutations from four unrelated families. In 3/3 patients, we observed a defect in platelet responses to protease-activated receptor (PAR) 1-activating peptide as the most consistent finding, either isolated or combined to defective responses to other agonists. A reduction of PAR1 receptors with normal expression of major glycoproteins on the platelet surface was also found. Thrombin-induced fibrinogen binding to platelets was severely impaired in 2/2 patients. In 4/4 patients, the BM biopsy showed fibrosis (grade 2-3) and extensive emperipolesis, with many (36-65%) MKs containing 2-4 leukocytes engulfed within the cytoplasm. Reduced immunolabeling for platelet factor 4 together with normal immunolabeling for CD63 in MKs of two patients demonstrated that GPS MKs display an alpha granule-specific defect. Increased immunolabeling for P-selectin and decreased immunolabeling for PAR1, PAR4 and c-MPL were also observed in MKs of two patients. Marked emperipolesis, specific defect of MK alpha-granule content and defect of PAR1-mediated platelet responses are present in all GPS patients that we could study in detail. These results help to further characterize the disease.
机译：灰色血小板综合症（GPS）是一种罕见的先天性血小板疾病，其特征是轻度至中度的出血素质，大血小板减少症和血小板中无嗜氮a颗粒。已经描述了一些血小板和巨核细胞（MK）异常，但是尚未进行对较大患者队列中的缺陷的确证研究。我们研究了来自四个不相关家庭的五名患有NBEAL2常染色体隐性突变的GPS患者的血小板功能和骨髓（BM）功能。在3/3的患者中，我们观察到对蛋白酶激活受体（PAR）1激活肽的血小板反应存在缺陷，这是最一致的发现，无论是分离的还是与其他激动剂的缺陷反应相结合。还发现在血小板表面上主要糖蛋白正常表达的PAR1受体减少。凝血酶诱导的血纤蛋白原与血小板的结合在2/2位患者中严重受损。在4/4例患者中，BM活检显示纤维化（2-3级）和广泛的经验性，许多（36-65％）MK含有被吞噬的2-4个白细胞。两名患者的MK中血小板因子4的免疫标记减少以及CD63的正常免疫标记显示，GPS MK显示出α颗粒特异性缺陷。在两名患者的MKs中还观察到P-选择蛋白的免疫标记增加，而PAR1，PAR4和c-MPL的免疫标记减少。明显的经验表明，所有GPS患者均存在MKα颗粒含量的特定缺陷和PAR1介导的血小板反应缺陷，我们可以对其进行详细研究。这些结果有助于进一步表征疾病。

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