Department of Pathology and Laboratory Medicine, Mount Sinai Hospital and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Department of Surgery, Division of Orthopaedic Surgery, University of Toronto Musculoskeletal Oncology Unit, Sinai Health System, Toronto, ON, Canada.
Virchows Arch. 2024 Jun;484(6):977-983. doi: 10.1007/s00428-023-03679-3. Epub 2023 Oct 21.
Synovial sarcoma (SS) is a tumor known for its classic monophasic spindle cell or biphasic morphology. However, it exhibits a wide range of histologic variations, leading to diagnostic challenges. Here, we present four cases of molecularly confirmed, biphasic SS originating in the feet and displaying myoepithelial differentiation. The patients were two men and two women with an age range from 19 to 71 years (mean, 45 years). Each tumor showed foci with conventional spindle cell morphology. The epithelial components included areas with nests and cords of epithelioid cells set within a hyalinized and sclerotic stroma. The cytoplasm was clear to pale and eosinophilic. The nuclei were ovoid-round with fine chromatin and small to inconspicuous nucleoli. Mitotic figures were present (2-13 per 10 high-power fields; mean, 6.5). Immunohistochemical studies showed variable staining of the myoepithelial-like regions for low molecular weight keratins, EMA, p63, and S100 protein. Molecular studies confirmed the presence of SS18::SSX1/2 fusion in all four tumors. These cases highlight an unusual variant of synovial sarcoma with an apparent predilection for the distal lower extremity and suggest that differentiation of biphasic synovial sarcoma may be impacted by the anatomic site. Awareness of this variant is important to avoid misclassification and potential treatment and prognostic implications.
滑膜肉瘤(SS)是一种以典型单相梭形细胞或双相形态为特征的肿瘤。然而,它表现出广泛的组织学变异,导致诊断挑战。在这里,我们介绍了 4 例分子证实的、起源于足部的双相 SS 病例,这些病例具有肌上皮分化。患者为 2 男 2 女,年龄 19 至 71 岁(平均 45 岁)。每个肿瘤均显示出具有常规梭形细胞形态的病灶。上皮成分包括巢状和条索状的上皮样细胞位于玻璃样和硬化性基质内。细胞质为透明至淡染和嗜酸性。细胞核呈卵圆形,染色质细,核仁小而不明显。有丝分裂象存在(2-13/10 高倍视野;平均 6.5)。免疫组织化学研究显示,低分子量角蛋白、EMA、p63 和 S100 蛋白对肌上皮样区域的染色存在不同程度的阳性。分子研究证实所有 4 例肿瘤均存在 SS18::SSX1/2 融合。这些病例突出了滑膜肉瘤的一种不常见变体,其明显倾向于远端下肢,并表明双相滑膜肉瘤的分化可能受解剖部位的影响。了解这种变体对于避免误诊和潜在的治疗及预后影响很重要。