无GLI1和EWSR1基因断裂的胃母细胞瘤。
Gastroblastoma without GLI1 and EWSR1 gene breaks.
发表日期:2023 Sep 01
作者:
Can Gong, Junyi Xu, Shuye Qiao, Xuemei Zhang, Min Yi
来源:
GENES & DEVELOPMENT
摘要:
报告一例罕见的胃胚叶瘤;讨论其临床特征、组织病理学形态学、诊断、鉴别诊断、治疗和预后,以提高对该疾病的理解,并为其诊断、治疗和预后提供参考。回顾性分析了一名19岁女性患者胃胚叶瘤的诊断和治疗、影像学检查、病理学和遗传学数据,并对相关文献进行了回顾和总结。在另一家医院进行体格检查时,发现患者出现了3天的“胃肠道间质瘤”。腹部CT和MRI考虑到“胰腺实性假乳头状瘤”,临床上计划进行“根治性胰十二指肠切除术”。手术过程中观察到肿瘤从胃窦后壁凸出,根部位于胃窦,于是改为“部分胃切除+ Ronx-y胃空肠吻合术”。术后病理学显示,肿瘤双向分化为胃上皮和间叶样组织。结合免疫组化结果和几个会诊单位的意见,支持胃胚叶瘤(低度恶性)的诊断。然而,FISH未检测到GLI1和EWSR1基因的断裂重排。19个月的随访后,未发现肿瘤复发和转移的迹象。结合现有文献报告,胃胚叶瘤多发生在年轻人中,男女发病率相等,且倾向于发生在胃窦。肿瘤的生物学行为倾向于惰性,大多数病例的预后良好。术后病理学和免疫组化是胃胚叶瘤的可靠诊断方法,手术切除病灶是首选治疗方法。© 2023. BioMed Central Ltd., part of Springer Nature.
To report a rare gastroblastoma; discuss its clinical features, histopathological morphology, diagnosis, differential diagnosis, treatment, and prognosis; and so as to improve the understanding on this disease and provide reference for its diagnosis, treatment, and prognosis.The diagnosis and treatment, imaging examination, pathological, and genetic data of a 19-year-old young female patient with gastroblastoma were analyzed retrospectively, and the relevant literature was reviewed and summarized.The patient was found to have a "gastrointestinal stromal tumor" for 3 days by physical examination in another hospital. Abdominal CT and MRI considered "solid pseudopapilloma of pancreas" and clinically planned to perform "radical pancreatoduodenectomy." During the operation, the tumor was observed to bulge from the posterior wall of the gastric antrum, and the root was located in the gastric antrum, so it was changed to "partial gastrectomy + Ronx-y gastrojejunal anastomosis." The postoperative pathology showed that the tumor was bi-differentiated between gastric epithelium and mesenchymal. Combined with the results of IHC and the opinions of several consultation units, the diagnosis of gastric blastoma (low-grade malignancy) was supported. However, the fracture rearrangement of GLI1 and EWSR1 genes was not detected by FISH. After 19 months of follow-up, no signs of tumor recurrence and metastasis were found.Combined with existing literature reports, gastroblastoma occurs in young people, equally in men and women, and tends to occur in the gastric antrum. The biological behavior of the tumor tends to be inert, and the prognosis of most cases is good. Postoperative pathology and IHC are reliable methods for the diagnosis of gastric blastoma, and surgical resection of the lesion is the preferred treatment.© 2023. BioMed Central Ltd., part of Springer Nature.