Gastroblastoma without GLI1 and EWSR1 gene breaks

World J Surg Oncol. 2023 Sep 1;21(1):274. doi: 10.1186/s12957-023-03159-7.

Abstract

Objective: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Keywords: Biphasic differentiation; Clinicopathologic feature; EWSR1; GLI1; Gastroblastoma.

MeSH terms

  • Female
  • Humans
  • Male
  • Neoplasm Recurrence, Local*
  • RNA-Binding Protein EWS
  • Retrospective Studies
  • Stomach Neoplasms* / genetics
  • Stomach Neoplasms* / surgery
  • Zinc Finger Protein GLI1 / genetics

Substances

  • Zinc Finger Protein GLI1
  • GLI1 protein, human
  • EWSR1 protein, human
  • RNA-Binding Protein EWS

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