Abstract：
Tenosynovial giant cell tumor is a benign neoplasm arising from the synovium of joints, including the temporomandibular joint (TMJ). Despite its benign nature, these tumors may exhibit aggressive behavior. A 57-year-old woman with a swollen, hardened area in the left TMJ was referred to the university´s clinic. The diagnosis of tenosynovial giant cell tumor was made based on the presence of hyperplastic synovial lining containing mononuclear and giant cells, hemorrhagic areas, hemosiderin deposits, and calcification foci in the biopsy. A low condylectomy was performed, and histopathologic analysis of the surgical piece upheld the diagnosis. Due to histopathologic resemblance with other giant cell-rich lesions (giant cell granuloma of the jaws, brown tumor of hyperparathyroidism, and non-ossifying fibroma) for which signature mutations are known, mutational analysis of KRAS, FGFR1, and TRPV4 genes was conducted. The results revealed wild-type sequences for all the mutations tested, thereby supporting the diagnosis of tenosynovial giant cell tumor.
摘要：
滑膜巨细胞瘤是一种由关节滑膜引起的良性肿瘤，包括颞下颌关节（TMJ）。尽管它是良性的，这些肿瘤可能表现出攻击行为。一个57岁的女人，左侧TMJ的硬化区域被转交给大学的诊所。腱鞘膜巨细胞瘤的诊断是基于含有单核细胞和巨细胞的增生性滑膜的存在，出血区,含铁血黄素沉积物,活检中的钙化灶.进行了低位髁切除术,手术的组织病理学分析支持诊断。由于与其他富含巨细胞的病变（颌骨巨细胞肉芽肿，甲状旁腺功能亢进的棕色肿瘤，和非骨化性纤维瘤），其特征突变是已知的，KRAS的突变分析，进行FGFR1和TRPV4基因。结果显示了所有测试突变的野生型序列，从而支持腱鞘膜巨细胞瘤的诊断。
