根据世界卫生组织(WHO)最近的分类,CIC重排肉瘤,包括CIC::DUX4阳性肉瘤构成未分化圆形细胞肉瘤的侵袭性亚型。有一项关于我们次大陆这些肿瘤的研究。我们介绍了该肿瘤实体的另外5例的临床病理特征,包括文献综述。39个未分化的圆形细胞肉瘤,不包括尤因肉瘤(ES),进行了CIC::DUX4融合测试,通过逆转录聚合酶链反应包括I型(165个碱基对大小)和II型(230bp)。这些肿瘤中的25例进行了EWSR1基因重排测试,SS18为5,SS18::SSX融合为4,这些测试都是阴性的.五个肿瘤(12.8%)对CIC::DUX4(II型)融合呈阳性。FiveCIC::DUX4阳性肉瘤发生在4名男性和1名女性中;25-43岁,在软组织中,包括大腿(n=2),胸壁(n=1),髂区(n=1)和足(n=1)。肿瘤大小从2.2到19cm不等。微观上,肿瘤主要由结节和恶性圆形上皮样细胞片组成,包括“横纹肌样”(n=2)和纺锤形(n=2),嗜酸性至液泡质(4/5),不同的核仁(4/5),活泼的有丝分裂,局灶性粘液样至透明基质(4/5)和坏死(5/5)。免疫组织化学,肿瘤细胞WT1阳性(5/5),calretinin(3/4),泛角蛋白(1/4),CD99/MIC2(“点状”到细胞质膜)(4/4),而desmin(0/4)为阴性,S100P(0/4),和NKX2.2(0/5)。INI1/SMARCB1保留(3/3)。所有患者均接受切除联合辅助放疗和化疗(尤因肉瘤方案)。一个病人复发了,2例发生肺转移,包括一个脑转移。CIC::DUX4阳性肉瘤是超罕见肿瘤,主要发生在软组织和年轻的成年患者中。组织病理学,这些肿瘤表现出广泛的光谱,包括圆形到上皮样细胞,不同数量的细胞质空泡化和粘液样基质坏死。免疫组织化学,这些肿瘤表达WT1和钙视网膜素。尽管有辅助治疗,这些肿瘤有令人沮丧的结果,尤其是大型肿瘤。CIC::DUX4阳性肉瘤需要与其组织病理学模拟物区分开来,包括ES,考虑到与治疗相关的重大影响。
According to the recent World Health Organization (WHO) classification, CIC-rearranged sarcomas, including CIC::DUX4-positive sarcomas constitute an aggressive subtype of undifferentiated round cell sarcomas. There is a single study on these tumors from our subcontinent. We present clinicopathological features of 5 additional cases of this tumor entity, including literature
review. Thirty-nine undifferentiated round cell sarcomas, excluding Ewing sarcomas (ES), were tested for CIC::DUX4 fusion, including Type I (165 base pair size) and II (230 bp) by reverse transcription-polymerase chain reaction. Twenty-five of those tumors were tested for EWSR1 gene rearrangement, 5 for SS18 and 4 for SS18::SSX fusion, and were negative for those tests. Five tumors (12.8 %) were positive for CIC::DUX4(Type II) fusion. Five CIC:: DUX4-positive sarcomas occurred in 4 males and one female; of 25-43 years of age, in soft tissues, including thigh (n = 2), chest wall (n = 1), iliac region (n = 1) and foot (n = 1). Tumor size varied from 2.2 to 19 cm. Microscopically, the tumors were predominantly composed of nodules and sheets of malignant round to epithelioid cells, including \"rhabdoid-like\" (n = 2) and spindle-shaped (n = 2) with eosinophilic to vacuolated cytoplasm (4/5), distinct nucleoli (4/5), brisk mitoses, focal myxoid to hyalinised stroma (4/5) and necrosis (5/5). Immunohistochemically, tumor cells were positive for WT1 (5/5), calretinin (3/4), pan-keratin (1/4), CD99/MIC2 (\"dot-like\" to cytoplasmic membranous) (4/4), while negative for desmin (0/4), S100P (0/4), and NKX2.2 (0/5). INI1/SMARCB1 was retained (3/3). All patients underwent excision with adjuvant radiotherapy and chemotherapy (Ewing sarcoma regimen). A single patient developed recurrence, and 2 developed pulmonary metastasis, including one with brain metastasis. CIC:: DUX4-positive sarcomas are ultra-rare tumors, that mainly occur in the soft tissues and in young adult patients. Histopathologically, these tumors display a wide spectrum, including round to epithelioid cells, variable amount of cytoplasmic vacuolization and myxoid stroma with necrosis. Immunohistochemically, these tumors express WT1 and calretinin. Despite adjuvant therapies, these tumors have dismal outcomes, especially in large-sized tumors. CIC::DUX4-positive sarcomas need to be differentiated from their histopathological mimics, including ES, in view of significant treatment-related implications.