ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2017
Gastroblastoma harbors a recurrent somatic MALAT1-GLI1 fusion gene.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed.
- The indolent nature of gastroblastoma. Report of an illustrative case with 28 years of follow-up showing previously unreported immunohistochemical and molecular features.Virchows Archiv : an international journal of pathology · 2026Article
- Gastric mesenchymal tumor with PTCH1::GLI2 fusion: a distinct subset of GLI1/GLI2-altered tumors?Virchows Archiv : an international journal of pathology · 2026Article
- Changes in the 6th edition of the World Health Organization classification of tumours of the digestive system.Histopathology · 2026Review
- Gastroblastoma: a case report and literature review.Frontiers in oncology · 2026Article
- High-grade uterine endometrial stromal sarcoma harboring GLI1 and MDM2/CDK4 co-amplifications.Diagnostic pathology · 2025Article
- GLI1/2-altered mesenchymal tumors: a study of 8 cases expanding the clinicopathological and molecular spectrum including an upstream PTCH1-inactivating mutation.Virchows Archiv : an international journal of pathology · 2025Article
- "Putting the cart before the horse": an update on promiscuous gene fusions in soft tissue tumors.Virchows Archiv : an international journal of pathology · 2025Review
- GLI1::FOXO4-rearranged kidney tumors: a potentially distinct renal subtype within the spectrum of GLI1-altered tumors?Virchows Archiv : an international journal of pathology · 2025Article
- Case Report: Gastric submucosal neoplasm withFrontiers in medicine · 2025Article
- A Comprehensive Clinicopathologic and Molecular Reappraisal of GLI1 -altered Mesenchymal Tumors with Pooled Outcome Analysis Showing Poor Survival in GLI1 - amplified Versus GLI1- rearranged Tumors.The American journal of surgical pathology · 2024Article
- Gastroblastoma - a case report and literature review.World journal of surgical oncology · 2024Review
- Gastric mesenchymal tumor with gastroblastoma-like features harboring PTCH1::GLI2 fusion.Virchows Archiv : an international journal of pathology · 2024Article
- GLI1 Coamplification in Well-Differentiated/Dedifferentiated Liposarcomas: Clinicopathologic and Molecular Analysis of 92 Cases.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2024Article
- Duodenal Soft Tissue Sarcoma with GLI1 Gene Rearrangement: A Case Report and Literature Review.The American journal of case reports · 2024Review
- The value of GLI1 and p16 immunohistochemistry in the premolecular screening for GLI1-altered mesenchymal neoplasms.Virchows Archiv : an international journal of pathology · 2024Article
- Gastroblastoma with a novel ACTB::GLI1 gene fusion in a 19-year-old male.Virchows Archiv : an international journal of pathology · 2024Article
- Non-gastrointestinal stromal tumor, mesenchymal neoplasms of the gastrointestinal tract: a review of tumor genetics, pathology, and cross-sectional imaging findings.Abdominal radiology (New York) · 2024Review
- Breaking paradigms: Long non-coding RNAs forming gene fusions with potential implications in cancer.Genes & diseases · 2024Review
- Plexiform Fibromyxoma in the Stomach: Immunohistochemical Profile and Comprehensive Genetic Characterization.International journal of molecular sciences · 2024Article
- Blastomas of the digestive system in adults: A review.World journal of gastrointestinal surgery · 2024Review
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15 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Gastroblastoma is a rare distinctive biphasic tumor of the stomach. The molecular biology of gastroblastoma has not been studied, and no affirmative diagnostic markers have been developed. We retrieved two gastroblastomas from the consultation practices of the authors and performed transcriptome sequencing on formalin-fixed paraffin-embedded tissue. Recurrent predicted fusion genes were validated at genomic and RNA levels. The presence of the fusion gene was confirmed on two additional paraffin-embedded cases of gastroblastoma. Control cases of histologic mimics (biphasic synovial sarcoma, leiomyoma, leiomyosarcoma, desmoid-type fibromatosis, EWSR1-FLI1-positive Ewing sarcoma, Wilms' tumor, gastrointestinal stromal tumor, plexiform fibromyxoma, Sonic hedgehog-type medulloblastomas, and normal gastric mucosa and muscularis propria were also analyzed. The gastroblastomas affected two males and two females aged 9-56 years. Transcriptome sequencing identified recurrent somatic MALAT1-GLI1 fusion genes, which were predicted to retain the key domains of GLI1. The MALAT1-GLI1 fusion gene was validated by break-apart and dual-fusion FISH and RT-PCR. The additional two gastroblastomas were also positive for the MALAT1-GLI1 fusion gene. None of the other control cases harbored MALAT1-GLI1. Overexpression of GLI1 in the cases of gastroblastomas was confirmed at RNA and protein levels. Pathway analysis revealed activation of the Sonic hedgehog pathway in gastroblastoma and gene expression profiling showed that gastroblastomas grouped together and were most similar to Sonic hedgehog-type medulloblastomas. In summary, we have identified an oncogenic MALAT1-GLI1 fusion gene in all cases of gastroblastoma that may serve as a diagnostic biomarker. The fusion gene is predicted to encode a protein that includes the zinc finger domains of GLI1 and results in overexpression of GLI1 protein and activation of the Sonic hedgehog pathway.
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