先天性孤立性肠道纤维瘤病2例临床病理学观察

Clinicopathological features of congential intestinal solitary fibromatosis: 2 cases report and literature review

目的探讨先天性孤立性肠道纤维瘤病(solitary intestinal fibromatosis,SIF)的临床病理学特征。方法回顾性分析先天性SIF的临床表现,影像学、病理学及免疫表型特征,并复习相关文献。结果 2例先天性SIF中男女婴各1例,均在出生当天出现呕吐、腹胀等临床症状。腹平片示符合小肠梗阻及气腹改变。手术均见局部空肠闭锁及肠壁穿孔。镜下见梭形肿瘤细胞弥漫浸润肠壁,形态大小较一致,形态温和,核分裂罕见。免疫组化标记vimentin阳性,肌源性标记SMA、desmin、Myogenin均阴性,其他标记S-100、CD117、CD34、ALK、β-catenin均阴性。其中1例行ETV6断裂基因检测,未见断裂基因。2例先天性SIF患者随访至今,未见肿瘤复发。结论先天性SIF为新生儿特有的罕见肠壁肿瘤,需与先天性纤维肉瘤及肌纤维瘤等鉴别;手术完整切除肿瘤,预后良好。

Purpose To study the clinicopathological fea- tures of congenital solitary intestinal fibromatosis （SIF）. Methoils Clinical, radiological and pathological features of 2 cases of SIF were analyzed along with a literature review. Results Two cases of SIF with one girl and one boy. Both presented with vomiting and abdominal distention at the birth day. A plain abdominal radiograph revealed small bowl obstruction and pneumoperitoneum. Jejunum atresia and perforation were detected at surgery. Microscopically, spindle tumor cells diffusely infiltrated in the whole intestinal wall, tumor cells were monomorphic with bland looking and rare mitosis was reviewed. Immunohistochemically, vimentin was positive while muscular markers as SMA, desmin and Myogenin were all negative. And S-100, CD117, CD34, ALK and β-catenin were not expressed. ETV6 split gene was not detected in one of the patients by FISH. Two patients of SIF had no tumor recurrence with follow-up till now. Conclusion Congenital SIF is a rare and unique intestinal tumor in neonate, and it should be differentiated from congenital fibrosarc, oma and myofibroma. SIF appears a very good prognsis after segmental resection.