ArticleVirchows Archiv : an international journal of pathology2022
GLI1-altered mesenchymal tumor: a clinicopathological and molecular analysis of ten additional cases of an emerging entity.
Article in Virchows Archiv : an international journal of pathology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Glioma-associated oncogene homolog 1-altered mesenchymal tumour of the upper oesophageal sphincter.BMJ case reports · 2026Article
- GLI1-rearranged mesenchymal tumor of the ovary with a novel ACTG1::GLI1 fusion.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
- GLI1-fusion neoplasm of the tongue: report of a pediatric case associated with SHOX deficiency disorder.Virchows Archiv : an international journal of pathology · 2026Article
- Pleural-Based GLI1-Altered Mesenchymal Tumor With ACTB-GLI1 Fusion: A Rare Pulmonary Entity Mimicking Synovial Sarcoma.Thoracic cancer · 2026Article
- Expanding the differential diagnosis for dural-based spindle cell neoplasms: A report of a rare GLI1-altered mesenchymal tumor of the CNS.Journal of neuropathology and experimental neurology · 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
- A case of GLI1-altered mesenchymal pleural tumour with novel gene fusion: a clinical perspective.Journal of surgical case reports · 2025Article
- Esoteric Diagnostic Considerations for Small Round Cell Tumors in Biopsy Specimens With Extensive Negative Immunohistochemical Profiles: Utilizing Subtle Histopathological Features Prior to Molecular Testing.Case reports in oncological medicine · 2025Article
- Article
- GLI1-altered mesenchymal tumor of tongue: a case report and literature review.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2024Review
- GLI1-Altered Mesenchymal Tumor with ACTB Fusion and Somatostatin Receptor 2A (SSTR2A) Immunopositivity.Cureus · 2024Article
- 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
- 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
- Review
- The value of GLI1 and p16 immunohistochemistry in the premolecular screening for GLI1-altered mesenchymal neoplasms.Virchows Archiv : an international journal of pathology · 2024Article
- Soft Tissue Sarcomas with Chromosomal Alterations in the 12q13-15 Region: Differential Diagnosis and Therapeutic Implications.Cancers · 2024Review
- Non-cutaneous syncytial myoepitheliomas are identical to cutaneous counterparts: a clinicopathologic study of 24 tumors occurring at diverse locations.Virchows Archiv : an international journal of pathology · 2023Article
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Abstract
We report 10 additional cases of GLI1-altered mesenchymal tumor to further delineate its clinicopathological and molecular spectrum. There were seven males and three females with a median age of 31 years (range 1.3 ~ 75 years). Five tumors arose in the oral cavity, one each in the stomach, uterine cervix, elbow, groin, and thigh. Histologically, all cases except one were composed of monomorphic round to epithelioid cells showing an infiltrative multinodular growth pattern. The neoplastic cells were surrounded by a rich network of capillary vessels. Vessel invasion or subendothelial protrusion into the vascular space was commonly present. One tumor developed regional lymph node metastasis. The remaining case showed a predominantly spindle cell tumor. By immunohistochemistry, most tumors showed diffuse staining of CD56 (8/8) with variable expression of S100 protein (7/8). In three tumors harboring amplified genes, strong and diffuse nuclear staining of MDM2 (2/3) and CDK4 (3/3) were noted. Next-generation sequencing (NGS) studies revealed GLI1 fusions in 7 cases and GLI1 amplification in 2 cases, which were validated by fluorescence in situ hybridization (FISH) analysis in the majority of cases. One case did not show fusion gene by RNA-seq, but FISH revealed both amplification and break-apart of GLI1 gene. Follow-up information showed local recurrences in two patients. All other patients remained disease-free at the last follow-up. Our study further demonstrates that mesenchymal tumors with GLI1 alterations represent a distinctive clinicopathological entity. Although the tumor has a propensity for the tongue, it can also arise in somatic soft tissues as well as in visceral organs. Based on the characteristic morphological features and genomic profiles, we propose the term "GLI1-altered mesenchymal tumor" to describe this emerging entity.
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