Department of Pathology, the First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230036, Anhui, China.
Intelligent Pathology Institute, the First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230001, Anhui, China.
World J Surg Oncol. 2022 May 14;20(1):156. doi: 10.1186/s12957-022-02611-4.
Chemotherapy is a common approach for cancer treatment, but intrinsic genetic mutations in different individuals may cause different responses to chemotherapy, resulting in unique histopathological changes. The genetic mutation along with the distinct histopathological features may indicate new tumor entities. BCOR-CCNB3 sarcomas is a kind of Ewing-like sarcomas (ELS) occurring mostly in bone and soft tissues. No gene fusion other than BCOR-CCNB3 has been found in this type of tumor.
We herein report a case of 17-year-old male patient, presented with a mass on his left shoulder that was diagnosed as undifferentiated small round cell sarcoma according to core biopsy. The patient received 5 courses of preoperational chemotherapy, and the tumor was resected and analyzed. Primitive small round cells and larger myoid cells in the resected tumor tissue but not in biopsy were observed, and arterioles stenosis and occlusion were also detected, indicating a dramatic change of histopathological features of this tumor. In addition, the immunohistochemical results showed the altered staining patterns of BCOR, bcl2, CyclinD1, TLE1, AR, SMA, CD117, STAB2, CD56, and CD99 in tumor tissues after chemotherapy. Notably, RNA sequencing revealed a RNF213-SLC26A11 fusion in the tumor sample.
The BCOR-CCNB3 sarcoma with RNF213-SLC26A11 fusion may indicate a subset of tumors that undergo histopathological changes in response to chemotherapy. More similar cases in the future may help to clarify the clinical meanings of RNF213-SLC26A11 fusion in BCOR-CCNB3 sarcomas and the underlying mechanisms.
化疗是癌症治疗的常用方法，但不同个体的内在遗传突变可能导致对化疗的不同反应，从而产生独特的组织病理学变化。遗传突变和独特的组织病理学特征可能提示新的肿瘤实体。BCOR-CCNB3 肉瘤是一种主要发生在骨骼和软组织的 Ewing 样肉瘤（ELS）。除了 BCOR-CCNB3 之外，这种肿瘤没有发现其他基因融合。
我们在此报告一例 17 岁男性患者，左肩部有一肿块，根据核心活检诊断为未分化小圆细胞肉瘤。患者接受了 5 个疗程的术前化疗，然后切除并分析肿瘤。在切除的肿瘤组织中观察到原始小圆细胞和较大的肌样细胞，但在活检中没有观察到，并且还检测到小动脉狭窄和闭塞，表明该肿瘤的组织病理学特征发生了显著变化。此外，免疫组织化学结果显示，化疗后肿瘤组织中 BCOR、bcl2、CyclinD1、TLE1、AR、SMA、CD117、STAB2、CD56 和 CD99 的染色模式发生了改变。值得注意的是，RNA 测序显示肿瘤样本中存在 RNF213-SLC26A11 融合。
具有 RNF213-SLC26A11 融合的 BCOR-CCNB3 肉瘤可能表明一组肿瘤在对化疗的反应中发生了组织病理学变化。未来更多类似的病例可能有助于阐明 RNF213-SLC26A11 融合在 BCOR-CCNB3 肉瘤中的临床意义和潜在机制。
