ArticleThe Journal of pathology2016
Recurrent MALAT1-GLI1 oncogenic fusion and GLI1 up-regulation define a subset of plexiform fibromyxoma.
Article in The Journal of pathology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- 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
- Plexiform fibromyxoma of the lesser curvature of the stomach in a 16-year-old adolescent: A case report and literature review.Experimental and therapeutic medicine · 2026Article
- Gastric mesenchymal tumor with PTCH1::GLI2 fusion: a distinct subset of GLI1/GLI2-altered tumors?Virchows Archiv : an international journal of pathology · 2026Article
- Plexiform Fibromyxoma with MALAT1-GLI1 Fusion with Limited Myxoid Stroma, Aberrant KIT Expression, and Diffuse D2-40 Expression: A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Smooth muscle actin (SMA)-negative uninodular plexiform fibromyxoma: case report of a challenging atypical presentation of a rare gastric mesenchymal tumor in a 25-year-old female.AME case reports · 2026Article
- High-grade uterine endometrial stromal sarcoma harboring GLI1 and MDM2/CDK4 co-amplifications.Diagnostic pathology · 2025Article
- GLI1-altered mesenchymal tumors of the head and neck.Seminars in diagnostic pathology · 2025Review
- 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
- Malignant epithelioid neoplasm with GLI1 gene rearrangement (PANX3::GLI1 transcript) and MDM2 gene amplification.Virchows Archiv : an international journal of pathology · 2025Article
- 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
- Review
- Article
- Robot-assisted partial gastrectomy with Billroth I anastomosis for gastric plexiform fibromyxoma in children: the first case report and literature review.AME case reports · 2025Article
- Gastric plexiform fibromyxoma: a case report and literature review.Frontiers in oncology · 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
- 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
- Gastroblastoma with a novel ACTB::GLI1 gene fusion in a 19-year-old male.Virchows Archiv : an international journal of pathology · 2024Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Plexiform fibromyxomas are rare neoplasms, being officially recognized as a distinct entity among benign mesenchymal gastric tumours in the 2010 WHO Classification of Tumours of the Digestive System. Characteristically, these tumours have a multinodular/plexiform growth pattern, and histologically contain variably cellular areas of bland myofibroblastic-type spindle cells embedded in an abundant myxoid matrix, rich in capillary-type vessels. As yet, the molecular and/or genetic features of these tumours are unknown. Here we describe a recurrent translocation, t(11;12)(q11;q13), involving the long non-coding gene metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) and the gene glioma-associated oncogene homologue 1 (GLI1) in a subgroup of these tumours. The presence of the fusion transcript in our index case was confirmed using polymerase chain reaction (PCR) on genomic DNA, followed by Sanger sequencing. We showed that the truncated GLI1 protein is overexpressed and retains its capacity to transcriptionally activate its target genes. A specific FISH assay was developed to detect the novel MALAT1-GLI1 translocation in formalin-fixed, paraffin-embedded (FFPE) material. This resulted in the identification of two additional cases with this fusion and two cases with polysomy of the GLI1 gene. Finally, immunohistochemistry revealed that the GLI1 protein is exclusively overexpressed in those cases that harbour GLI1/12q13 genomic alterations. In conclusion, overexpression of GLI1 through a recurrent MALAT1-GLI1 translocation or GLI1 up-regulation delineates a pathogenically distinct subgroup of plexiform fibromyxomas with activation of the Sonic Hedgehog signalling pathway. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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