Larousserie Frédérique, Audard Virginie, Burns Robert, de Pinieux Gonzague
Service de pathologie, hôpital Cochin, AP-HP, 27, rue Saint-Jacques, 75679 Paris cedex 14, France; Université Paris Cité, Paris, France.
Service de pathologie, hôpital Cochin, AP-HP, 27, rue Saint-Jacques, 75679 Paris cedex 14, France.
Ann Pathol. 2022 Apr;42(3):214-226. doi: 10.1016/j.annpat.2022.03.004. Epub 2022 May 3.
Giant cell tumors of bone (GCTs) are rare mesenchymal tumors classified as intermediate in the WHO 2020 classification, i.e. neither completely benign nor definitely malignant, due to recurrence (frequent) and pulmonary metastases (rare). They involve the end of long bones as well as the axial bones of mature skeletons. They are made of mononuclear stromal tumor cells of (pre-) osteoblastic phenotype, mononuclear cells of the monocyte-macrophage lineage and osteoclast-like multinuclear giant cells responsible for tumor osteolysis. In 95% of cases, the stromal cells have a specific mutation in the H3F3A gene which encodes histone H3.3. The mutated H3.3 G34W protein (90% of cases) can be easily detected by immunohistochemistry, even on small samples. Many tumors or bone pseudotumors contain osteoclast-like giant cells, cells of the bone microenvironment, and should not be confused with GCT: mainly brown tumor of hyperparathyroidism, aneurysmal bone cyst, chondroblastoma, non-ossifying fibroma and central giant cell granuloma.
骨巨细胞瘤（GCT）是一种罕见的间充质肿瘤，在世界卫生组织2020年分类中被归类为中间型，即由于复发（常见）和肺转移（罕见），既不完全良性也不绝对恶性。它们累及长骨末端以及成熟骨骼的轴向骨骼。它们由（前）成骨细胞表型的单核基质肿瘤细胞、单核细胞 - 巨噬细胞谱系的单核细胞以及负责肿瘤骨溶解的破骨细胞样多核巨细胞组成。在95%的病例中，基质细胞在编码组蛋白H3.3的H3F3A基因中存在特定突变。突变的H3.3 G34W蛋白（90%的病例）即使在小样本上也能通过免疫组织化学轻松检测到。许多肿瘤或骨假瘤含有破骨细胞样巨细胞、骨微环境细胞，不应与骨巨细胞瘤混淆：主要是甲状旁腺功能亢进的棕色瘤、动脉瘤样骨囊肿、成软骨细胞瘤、非骨化性纤维瘤和中央巨细胞肉芽肿。
