McHugh Kelsey E, Reith John D, Mesko Nathan W, Kilpatrick Scott E
Department of Anatomic Pathology, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
Department of Orthopedic Surgery, Cleveland Clinic, Cleveland, OH 44195, USA.
Case Rep Pathol. 2020 Jan 28;2020:5492754. doi: 10.1155/2020/5492754. eCollection 2020.
Synovial sarcoma is a well-known malignant tumor usually originating within deep soft tissues of the lower extremities of adolescents and young adults. Rare radiologically confirmed examples of primary bone synovial sarcoma have been documented, generally in isolated case reports. Herein, we report two cases of primary intraosseous synovial sarcoma, with molecular confirmation, involving the left humerus of a 45-year-old female and the right fourth metatarsal bone in a 36-year-old male. Additionally, we clarify the spectrum of primary intraosseous synovial sarcoma by separately analyzing reported cases with radiographic confirmation of bone origin and molecular support for the diagnosis. There are clinicopathologic differences between those tumors with documented molecular confirmation and those lacking such confirmation, specifically regarding their anatomic distribution ( < 0.0001). Regarding the radiology of our two cases, the humeral lesion appeared almost entirely intramedullary without soft tissue extension; the midfoot lesion demonstrated a destructive, metatarsal-centered bone lesion, initially thought clinically to represent primary bone osteosarcoma. The diagnoses of monophasic synovial sarcoma were rendered via core needle biopsies, with molecular FISH confirmation of gene rearrangement. Clinical follow-up data was only available for the female patient with the primary humeral lesion, who underwent surgical resection, with no local recurrence or distant metastasis at 7 months postsurgery. To our knowledge, these are the first reported examples of molecularly confirmed, primary intraosseous synovial sarcomas of the humerus and metatarsal bones. Primary intraosseous synovial sarcomas with molecular confirmation differ clinically from those lacking it; however, the demographic features and metastatic potential appear similar to primary soft tissue synovial sarcoma.
滑膜肉瘤是一种常见的恶性肿瘤，通常起源于青少年和年轻成年人下肢的深部软组织。罕见的经放射学证实的原发性骨滑膜肉瘤病例已有文献记载，一般为个案报道。在此，我们报告两例经分子学证实的原发性骨内滑膜肉瘤病例，分别累及一名45岁女性的左肱骨和一名36岁男性的右第四跖骨。此外，我们通过分别分析经放射学证实骨起源且有分子诊断支持的报道病例，阐明原发性骨内滑膜肉瘤的谱系。有分子学证实的肿瘤与无分子学证实的肿瘤在临床病理上存在差异，特别是在解剖分布方面（<0.0001）。关于我们这两例病例的放射学表现，肱骨病变几乎完全位于骨髓腔内，无软组织延伸；中足病变表现为以跖骨为中心的破坏性骨病变，临床上最初认为是原发性骨肉瘤。通过粗针活检诊断为单相滑膜肉瘤，并经分子荧光原位杂交（FISH）证实 基因重排。仅获得了原发性肱骨病变女性患者的临床随访数据，该患者接受了手术切除，术后7个月无局部复发或远处转移。据我们所知，这些是首次报道的经分子学证实的肱骨和跖骨原发性骨内滑膜肉瘤病例。经分子学证实的原发性骨内滑膜肉瘤在临床上与未经证实的有所不同；然而，其人口统计学特征和转移潜能似乎与原发性软组织滑膜肉瘤相似。
