Wan X, Tang J L, Li X, Wang C, Li H, Pan M H
Department of Pathology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
Zhonghua Bing Li Xue Za Zhi. 2023 Jul 8;52(7):690-695. doi: 10.3760/cma.j.cn112151-20221228-01072.
To investigate the clinicopathological features and differential diagnosis of CIC-rearranged sarcoma (CRS). Five CRSs of 4 patients (2 biopsies of pelvic cavity and lung metastasis from case 4) diagnosed in the First Affiliated Hospital of Nanjing Medical University were enrolled from 2019 to 2021. All cases were evaluated by clinical presentation, H&E, immunohistochemical staining and molecular analysis and the related literature was reviewed. There were one male and three females, the age at diagnosis ranged from 18 to 58 (mean 42.5) years. Three cases were from the deep soft tissues of the trunk and one case from the skin of foot. Grossly, the tumor size ranged from 1 to 16 cm. Microscopically, the tumor was arranged in nodules or solid sheets. The tumor cells were typically round or ovoid, with occasional spindled or epithelioid morphology. The nuclei were round to ovoid with vesicular chromatin and prominent nucleoli. Mitotic figures were brisk (>10/10 HPF). Rhabdoid cells were seen in four of five cases. Myxoid change and hemorrhage were observed in all samples and two cases showed geographic necrosis. Immunohistochemically, CD99 was variably positive in all samples, while WT1 and TLE-1 were positive in four of five samples. Molecular analysis showed CIC-rearrangements in all cases. Two patients succumbed within 3 months. One had mediastinal metastasis 9 months after surgery. One underwent adjuvant chemotherapy and remained tumor-free 10 months after diagnosis. CIC-rearranged sarcoma is uncommon and shows aggressive clinical course with dismal prognosis. The morphological and immunohistochemical characteristics can largely overlap with a variety of sarcomas; hence, knowledge of this entity is vital to avoid potential diagnostic pitfalls. Definitive diagnosis requires molecular confirmation of CIC-gene rearrangement.
探讨CIC重排肉瘤（CRS）的临床病理特征及鉴别诊断。收集2019年至2021年在南京医科大学第一附属医院确诊的4例患者的5例CRS（其中病例4的盆腔活检及肺转移灶2例）。所有病例均通过临床表现、苏木精-伊红染色（H&E）、免疫组织化学染色及分子分析进行评估，并复习相关文献。患者1例男性，3例女性，确诊年龄为18至58岁（平均42.5岁）。3例来自躯干深部软组织，1例来自足部皮肤。大体上，肿瘤大小为1至16 cm。显微镜下，肿瘤呈结节状或实性片状排列。肿瘤细胞通常呈圆形或卵圆形，偶尔呈梭形或上皮样形态。细胞核呈圆形至卵圆形，染色质呈泡状，核仁明显。核分裂象活跃（>10/10高倍视野）。5例中有4例可见横纹肌样细胞。所有样本均观察到黏液样改变和出血，2例出现地图状坏死。免疫组织化学检查显示，所有样本中CD99呈不同程度阳性，5例中有4例WT1和TLE-1阳性。分子分析显示所有病例均存在CIC重排。2例患者在3个月内死亡。1例术后9个月出现纵隔转移。1例接受辅助化疗，确诊后10个月无瘤生存。CIC重排肉瘤罕见，临床病程侵袭性强，预后差。其形态学和免疫组织化学特征在很大程度上可与多种肉瘤重叠；因此，了解该实体对于避免潜在的诊断陷阱至关重要。明确诊断需要CIC基因重排的分子确认。
