■滑膜肉瘤(SS)在女性生殖道中很少见,特别是通过SYT::SSX易位和TLE1免疫染色的分子测试证实。一名62岁的女士右腹股沟肿块和疼痛逐渐增加,为期6个月。放射学上,一个定义明确的,囊性实性肿块累及右侧阴唇并伴有坏死区,保护下面的肌肉和上面的皮肤。她接受了活检,然后进行了手术切除。组织病理学检查显示梭形细胞肉瘤,包括表现出突出血管外皮细胞瘤模式的肿瘤细胞。在切除的标本中,存在上皮分化的局灶性区域(假性腺)以及圆形细胞形态区域和有丝分裂增加(分化差)。免疫组织化学,肿瘤细胞TLE1弥漫性阳性,泛角蛋白(AE1/AE3)和EMA呈扁平阳性,后者更多在上皮分化领域,CD34、SMA阴性,desmin,S100P,SOX10INI1/SMARCB1显示出特征性的弱至缺失(镶嵌)染色模式。此外,通过RT-PCR,肿瘤显示SS18::SSX1融合。这是少数报道的外阴SS病例之一,通过分子测试和第一个记录的外阴SS证实显示INI1/SMARCB1免疫染色的马赛克模式。本文对文献和诊断意义进行了综述。
UNASSIGNED: Synovial sarcoma (SS) is rarely documented in the female genital tract, especially confirmed by molecular testing for SYT::SSX translocation and TLE1 immunostaining. A 62-year-old lady presented with a progressively increasing lump and pain over her right groin, for 6-month duration. Radiologically, a well-defined, solid-cystic mass was seen involving the right labia with necrotic areas, sparing the underlying muscles and the overlying skin. She underwent a biopsy followed by a surgical excision. Histopathologic examination revealed a spindle cell sarcoma, including tumor cells exhibiting a prominent hemangiopericytomatous pattern. There were focal areas of epithelial differentiation (pseudoglandular) along with areas of round cell morphology and increased mitoses (poor differentiation) in the resected specimen. Immunohistochemically, the tumor cells were diffusely positive for TLE1, patchily positive for pan keratin (AE1/AE3) and EMA, the latter more in the areas of epithelial differentiation, while negative for CD34, SMA, desmin, S100P, and SOX10. INI1/SMARCB1 showed a characteristic weak to absent (mosaic) staining pattern. Furthermore, the tumor displayed SS18::SSX 1 fusion by RT-PCR. This constitutes one of the few reported cases of vulvar SS, confirmed by molecular testing and the first documented vulvar SS showing a mosaic pattern of INI1/SMARCB1 immunostaining. A
review of the literature and diagnostic implications are presented herewith.