Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, Miami, Florida.
Department of Pathology, Stanford University, Stanford, California.
Mod Pathol. 2024 Jan;37(1):100383. doi: 10.1016/j.modpat.2023.100383. Epub 2023 Nov 14.
We report the clinicopathologic and immunohistochemical features of 18 cases of confirmed primary synovial sarcoma of the gastrointestinal tract. The neoplasms arose in 10 women and 8 men ranging in age from 23 to 81 years (mean: 50; median: 57.5 years). The tumors for which size was known ranged from 1.8 to 15.0 cm (mean: 5.2; median: 5.1 cm). Microscopically, 14 synovial sarcomas were of the monophasic type, 2 were biphasic, and 2 were poorly differentiated. Immunohistochemical analysis of 4 cases showed strong, diffuse staining for SS18::SSX (4/4 cases). Pancytokeratin and EMA immunohistochemistry were performed on 13 and 9 tumors, respectively, and each showed patchy-to-diffuse staining. By reverse-transcription PCR, 3 cases were positive for the SS18::SSX1, and 2 cases were positive for the SS18::SSX2 gene fusion. Six cases contained an SS18 gene rearrangement by fluorescence in situ hybridization, and next-generation sequencing identified an SS18::SSX2 gene fusion in one case. Clinical follow-up information was available for 9 patients (4 months to 4.6 years; mean, 2.8 y; median: 29 months), and one patient had a recent diagnosis. Three patients died of disease within 41 to 72 months (mean, 56 months) of their diagnosis. Five patients were alive without evidence of disease 4 to 52 months (mean, 17.6 months) after surgery; of whom 1 of the patients received additional chemotherapy treatment after surgery because of recurrence of the disease. A single patient was alive with intraabdominal recurrence 13 months after surgery. We conclude that synovial sarcoma of the gastrointestinal tract is an aggressive tumor, similar to its soft tissue counterpart, with adverse patient outcomes. It is important to distinguish it from morphologically similar gastrointestinal tract lesions that may have different treatment regimens and prognoses.
我们报告了 18 例经证实的原发性胃肠道滑膜肉瘤的临床病理和免疫组织化学特征。这些肿瘤发生于 10 名女性和 8 名男性，年龄 23 至 81 岁（平均年龄：50 岁；中位数：57.5 岁）。已知肿瘤大小的 18 例中，范围为 1.8 至 15.0 cm（平均大小：5.2 cm；中位数：5.1 cm）。显微镜下，14 例滑膜肉瘤为单相型，2 例为双相型，2 例为低分化型。4 例的免疫组织化学分析显示 SS18::SSX 弥漫强阳性（4/4 例）。4 例进行了泛细胞角蛋白和 EMA 免疫组织化学检测，分别显示为局灶至弥漫阳性。通过逆转录聚合酶链反应，3 例为 SS18::SSX1 阳性，2 例为 SS18::SSX2 基因融合阳性。6 例通过荧光原位杂交显示 SS18 基因重排，1 例通过下一代测序鉴定为 SS18::SSX2 基因融合。9 例患者（4 个月至 4.6 年；平均：2.8 年；中位数：29 个月）有临床随访资料，其中 1 例为近期诊断。3 例患者在诊断后 41 至 72 个月（平均：56 个月）内死于疾病。5 例患者手术后无疾病存活 4 至 52 个月（平均：17.6 个月）；其中 1 例患者因疾病复发在手术后接受了额外的化疗治疗。1 例患者手术后 13 个月出现腹腔内复发，仍存活。我们的结论是，胃肠道滑膜肉瘤是一种侵袭性肿瘤，与软组织肉瘤相似，患者预后不良。重要的是要将其与形态学上相似的胃肠道病变区分开来，这些病变可能有不同的治疗方案和预后。
