Gastroblastoma - a case report and literature review

To report a new case of gastroblastoma and conduct an exhaustive review of the clinical, morphological, immunohistochemical, molecular features, diagnosis, treatment, and prognosis, to enhance understanding of this condition.

We retrospectively analyzed the case of a 50-year-old woman diagnosed with gastroblastoma and conducted a review and summary of relevant literature.

To date, 27 cases have been reported, including the present case. The mean patient age at the time of presentation was 35.0 years (range, 5-74 years), and the disease showed no sex predilection. The most common location was the gastric antrum, and the average lesions size was 5.7 cm (range, 1.3-15 cm). Most patients underwent gastrectomy(n = 23), while several underwent ESD(n = 2) or EFTR(n = 1). Fusion genes were identified, including MALAT1-GLI1(n = 8), EWSR1-CTBP1(n = 1), PTCH1:GLI2(n = 1), and ACTB-GLI1(n = 1)Four patients had metastasis and one of them dead of disease. Immunohistochemical (IHC) analysis revealed that pancytokeratin was always positive in epithelioid components, while vimentin and CD10 were always positive in mesenchymal components. CD56 were often positive in both two components.

A comprehensive evaluation of clinical and pathological features is crucial for accurate diagnosis. Partial gastrectomy and EFTR could be an appropriate treatment. The risk factors that affect the prognosis need more cases to be clearly defined. We present this exhaustive literature review to increase awareness of gastroblastoma, better characterize the disease, and provide a reference point for gastroblastoma research in the future.