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

ObjectiveGastroblastoma is an extremely rare gastric tumor. Its pathogenesis remains unclear and there is a lack of specific clinical symptoms. The aim of this paper is to report a case of gastroblastoma and provide references for the diagnosis, treatment, and prognosis of this disease.MethodsThe diagnosis and treatment of a 51-year-old female patient with gastroblastoma were retrospectively reported. Analyzing this case by combining the clinical data such as imaging and pathological results of patients with the relevant literature.ResultsThe patient’s chief complaint was the presence of melena persisted for over two weeks. Abdominal contrast-enhanced CT showed gastric antral nodules, and micro-probe endoscopic ultrasonography was considered as “gastric antral protruding lesions”. The initial diagnosis of “gastric stromal tumor” was made after admission, and surgical treatment was performed on September 23, 2021. Postoperative pathology showed that gastric mixed epithelial and stromal tumor, combined with immunohistochemical staining, was suggestive of gastroblastoma. No signs of tumor recurrence or metastasis were observed during the 2-year follow-up.ConclusionCombined with the existing literature reports, the incidence of gastroblastoma is mainly higher in young men, and the predilection site is gastric antrum. The biological behavior of the tumor tends to be indolent, and the prognosis of most cases is favorable. However, due to the extremely small number of cases, this conclusion still needs a large number of cases and follow-up data to support. Postoperative pathological and immunohistochemical examination results are the only methods for definite diagnosis at present, and surgery is the first choice for treatment.

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.

BackgroundGastroblastoma is an extremely rare stomach tumor with a biphasic cell morphology of epithelioid and spindle cells. Due to the low incidence rate and the lack of specific clinical characteristics, it is easy to misdiagnose. Detailed imaging analysis is also unavailable. At present, we reported a case of gastroblastoma to analyze its clinical and imaging characteristics. In addition, we reviewed the imaging findings, current diagnosis, treatment, and outcome of gastroblastoma.Case presentationA 5-year-old girl was admitted to our hospital with upper abdominal pain and melena. Endoscopic examination showed a protuberant submucosal mass on the greater curvature of the gastric body. Abdominal ultrasonography and an abdominal enhanced computed tomography further confirmed the mass. The patient was pathologically diagnosed with gastroblastoma after radical surgery in February 2021.ConclusionWe described a rare case of gastroblastoma and may provide a new perspective on imaging diagnosis, treatment, and outcome of this tumor. Gastroblastoma tends to occur in male patients, typically affects young people, and has low malignant potential and a low rate of recurrence and metastasis. Gastroblastoma usually arises in the gastric muscularis propria with hypoecogenic and submucosal characteristics in ultrasound examination and significant enhancement in computed tomography (CT) scan. Surgical resection and regular follow-up after surgery are the main management of the disease. Clinicians should strengthen the understanding of this rare tumor for early detection and treatment.

Abstract Background Gastroblastoma is a rare gastric tumor composed of epithelial and spindle cell components. The characteristic MALAT–GLI1 fusion gene has only been identified in 5 reported cases. We report the morphological characterization of gastroblastoma with the MALAT1–GLI1 fusion gene in a young Japanese woman. Case presentation A 29-year-old Japanese woman visited Iwate Medical University Hospital with upper abdominal pain. Computed tomography revealed a tumor in expansive lesions involving the gastric antrum. Histologically, we observed a biphasic morphology composed of epithelial and spindle cell components. The epithelial components appeared as slit-like glandular structures with tubular or rosette-like differentiation. The spindle cell components consisted of short spindle-shaped oval cells. Immunohistochemical (IHC) analysis revealed that the spindle cell component was positive for vimentin, CD10, CD56, GLI1, and HDAC2, and focally positive for PD-L1. The epithelial component was positive for CK AE1/AE3, CAM5.2, and CK7, and negative for CK20 and EMA. Both components were negative for KIT, CD34, DOG1, SMA, desmin, S100 protein, chromogranin A, synaptophysin, CDX2, and SS18-SSX. The MALAT-GLI1 fusion gene was detected molecularly. Conclusions We report the following new findings with this case: (i) gastric tumors mimic the gastrointestinal mesenchyme in the embryonic period; (ii) nuclear expression of PD-L1 and HDAC2 were observed in the spindle cell component of a gastroblastoma. We speculate that histone deacetylase (HDAC) inhibitors may offer a promising treatment option for gastroblastoma.

Gastroblastoma is an extremely rare stomach tumor that primarily presents in adolescent and early adulthood, with a biphasic cell morphology of epithelioid and spindle cells. In light of its similarity to other childhood blastomas, it has been named gastroblastoma. Few patients showed a potential of metastasis and recurrence, however, most of the reported cases were alive, with no evidence of the disease after surgical treatment. Commonly, MALAT1-GLI1 fusion has been considered to be the most relevant mutation. Herein, we present a case of an asymptomatic 58-year-old man who happened to find a submucosal gastric mass during a gastroscope and received endoscopic submucosal excavation (ESE). He turned out to have a gastroblastoma with a novel PTCH1::GLI2 fusion confirmed by Sanger sequencing. The patient was discharged two days after ESE without any complication and was recurrence-free during his one-year follow-up. According to the previous literature and our own experience, in cases with characteristic histopathology and immunohistochemistry patterns, a diagnosis of gastroblastoma should be considered even without a MALAT1-GLI1 fusion. Gastroblastoma pursues a favorable clinical outcome and endoscopic therapy could be an effective alternative treatment choice.

Gastroblastoma is a rare biphasic tumor of the stomach that generally presents in young patients. MALAT1-GLI1 gene fusion was considered to be the characteristic molecular alteration of this tumor in previous reports. Herein, we described a 58-year-old man with a mass mainly located in the submucosa of the stomach. Microscopic examination showed a biphasic morphology with the same immunohistochemical phenotype as gastroblastoma. Interestingly, a novel PTCH1::GLI2 fusion rather than MALAT1-GLI1 fusion was detected in the tumor by RNA-based next generation sequencing (NGS). This was the first report that demonstrated a novel PTCH1::GLI2 gene fusion in gastroblastoma, and thus expanded the molecular spectrum of this tumor. The underlying pathogenesis merits further investigation.