摘要
目的探讨SMARCA4缺失的原发性胸部肉瘤的临床病理特征。方法收集复旦大学附属肿瘤医院病理科2016年12月至2018年10月间诊断的5例SMARCA4缺失的原发性胸部肉瘤的临床及影像学资料,进行组织学、免疫组织化学染色及二代测序,并复习相关文献。结果5例SMARCA4缺失的原发性胸部肉瘤,患者均为男性患者,年龄32至65岁,平均年龄54岁,中位年龄61岁。4例吸烟,1例吸烟情况不明。肿瘤平均最大径5.6 cm,肿瘤原发部位分别为胸壁、胸腔、肺及纵隔。组织学上,肿瘤细胞排列成实性片状或岛状,瘤细胞常呈上皮样细胞形态伴有显著的核分裂象和大片坏死。部分区域肿瘤细胞具有横纹肌样形态学特征,核呈空泡状。免疫组织化学染色显示SMARCA4、SMARCA2和Claudin-4均阴性(5/5),SOX2和SMARCB1均核阳性(5/5)。其中3例进行二代测序,均有SMARCA4和p53基因共突变,此外还检测到STK11、ERBB4、NF2、GNAS、MTOR、MET突变和FGFR1拷贝数扩增等。随访5例SMARCA4缺失的原发性胸部肉瘤,2例死亡,1例带瘤生存,2例无瘤生存;复发和转移比例为3/5;2例进行根治性切除后无复发。结论SMARCA4缺失的原发性胸部肉瘤是一类罕见原发于胸腔的恶性肿瘤,组织学上具有横纹肌样形态特征,并具有特征性免疫表型和分子型。该类肿瘤具有高度侵袭性生物学行为,预后差。
Objective To investigate the clinicopathological characteristics of SMARCA4- deficient thoracic sarcomas. Methods The clinical features and CT scans of SMARCA4-deficient thoracic sarcomas (n=5) diagnosed at Fudan University Cancer Hospital from December 2016 to October 2018 were reviewed. Hematoxylin-eosin staining, immunohistochemistry and targeted next generation sequencing were performed in available cases along with a literature review. Results All 5 patients were males with age ranging from 32 to 65 years (average 54 years;median 61 years). Four patients were smokers except one with unknown smoking history. The average maximum diameter of tumor was 5.6 cm. Tumor primary sites included thoracic wall,thoracic cavity,lung and mediastinum. Histologically,tumor cells formed solid sheets or anastomosing islands with brisk mitotic figures accompanying with large areas of necrosis. Three cases focally exhibited rhabdoid morphology and vesicular chromatin. Immunohistochemically, SMARCA4, SMARCA2 and Claudin-4 were negative in all cases and all tumors demonstrated SOX2 and SMARCB1 nuclear positive staining. Among 3 cases analyzed by targeted next generation sequencing, concurrent SMARCA4 and p53 mutation was detected in all three cases. Mutations of STK11, ERBB4, NF2, GNAS, MTOR,MET and FGFR1 amplification were also detected among the three cases. The follow-up information was available in all 5 cases. Two patients died of the tumor. One relapsed multiple times after surgeries but was alive with disease. Two patients received radical excisions without relapse. Conclusions SMARCA4-deficient thoracic sarcoma is a rare but highly-aggressive tumor with dismal prognosis. The tumor is featured by rhabdoid morphology histologically and distinctive immunohistochemical and molecular phenotype.
作者
郑茗嘉
郑强
王悦
沈磊
朱雄增
李媛
Zheng Mingjia;Zheng Qiang;Wang Yue;Shen Lei;Zhu Xiongzeng;Li Yuan(Department of Pathology, Fudan University Cancer Center,Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China)
出处
《中华病理学杂志》
CAS
CSCD
北大核心
2019年第7期537-542,共6页
Chinese Journal of Pathology
