摘要
骨巨细胞瘤（giant cell tumor of bone，GCTB）是一种发生于关节下、具有局部侵袭性的肿瘤。最近报道称，H3.3 G34W突变是这类肿瘤的特征性改变，我们研究了抗组蛋白H3.3 G34W兔单克隆抗体在多种肿瘤中的敏感性和特异性，其中包括形态学上易与GCTB混淆的肿瘤，以评估其作为诊断性标志物的价值。我们另外通过评价基因表型和H3.3 G34W免疫染色结果来判定H3.3 G34W突变在原发恶性骨肿瘤中的发生率。我们共测试了3163例肿瘤。最终，H3.3 p.G 34W抗体在235例GCTB中有213例（90.6%）细胞核阳性表达。但是，H3.3 p.G34L、M、V等罕见亚型并非如此，它们往往发生于手骨、髌骨、中轴骨。如果剔除这些部位，H3.3 p.G34W抗体在GCTB中的阳性表达率高达97.8%。恶性骨肿瘤中最初划分为骨肉瘤的部分（n=11）是唯一G34W抗体阳性表达的其它病变。值得注意的是，先前有两篇报道称，伴有p.G34R突变的骨肉瘤对于该抗体并不具有免疫反应性。另外，13例伴有H3.3突变的恶性骨肿瘤中有11例形态学上具有富于破骨细胞的区域，并且影像学证实除1例以外，其余均发生于关节下。因此，我们认为，发生于关节下并伴有H3.3突变的原发恶性骨肉瘤，即便缺乏良性GCTB成分，也可以诊断为真正的恶性GCTB。
来源：Am J Surg Pathol 2017;41:1059–1068
美国外科病理学杂志中文版2017年第一期摘要No.4
（倪浩 翻译；郭凌川 审校）
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