ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2019
GLI1-amplifications expand the spectrum of soft tissue neoplasms defined by GLI1 gene fusions.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 108 citations in OpenAlex.
- An Incidental EWSR1-Rearranged Sarcoma of the Orbit with Primitive Neuroectodermal Morphology and Myogenic Differentiation: A Case Report and Diagnostic Challenge".Asian journal of neurosurgery · 2026Article
- Glioma-associated oncogene homolog 1-altered mesenchymal tumour of the upper oesophageal sphincter.BMJ case reports · 2026Article
- GLI2::CREBBP fusions define a subset of potentially aggressive nested-hyalinizing epithelioid soft tissue neoplasms.Virchows Archiv : an international journal of pathology · 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
- 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
- Pediatric metastatic extracranial high-grade glioma: A case report and literature review.Neuro-oncology practice · 2025Article
- Diagnostic trap: a case report of intimal sarcoma occurring in the left atrium.Frontiers in cardiovascular medicine · 2025Article
- Case Report: Gastric submucosal neoplasm withFrontiers in 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
- 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
- Hedgehog pathway and cancer: A new area (Review).Oncology reports · 2024Review
- Molecularly defined sinonasal malignancies: an overview with focus on the current WHO classification and recently described provisional entities.Virchows Archiv : an international journal of pathology · 2024Review
- 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
- Sarcomas with EWSR1::Non-ETS Fusion (EWSR1::NFATC2 and EWSR1::PATZ1).Surgical pathology clinics · 2024Review
- Spindle Cell Tumors of the Sinonasal Tract: A Diagnostic Update with Focus on Ancillary Workup.Head and neck pathology · 2024Review
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
Abstract
GLI1 fusions involving ACTB, MALAT1, and PTCH1 genes have been recently reported in a subset of malignant soft tissue tumors with characteristic monomorphic nested epithelioid morphology and frequent S100 positivity. However, we encountered a group of morphologically similar soft tissue tumors lacking the canonical GLI1 gene fusions and sought to investigate their genetic abnormalities. A combined approach including RNA sequencing, targeted exome sequencing and FISH methodologies were used to identify potential novel genetic abnormalities. Ten patients (five females, five males) with an age range of 4-65 years (median 32.5) were identified. Tumors were located in the soft tissues of the limbs, trunk and head and neck, with one each in the tongue and lung. Histologically, tumors revealed ovoid to epithelioid cells arranged in a distinctive nested-trabecular pattern, separated by thin septa and a delicate vascular network. Two cases showed areas of increased nuclear pleomorphism and focal fascicular spindle cell growth. Four tumors showed a high mitotic count (≥15/10 HPFs), with necrosis seen in three of them. Lymphovascular invasion was noted in two cases. No consistent immunoprofile was detected, with positivity for CD56 (six cases), S100 (four cases), SMA (two cases), and pan-CK (one case). FISH showed GLI1 (12q13.3) gene amplification in all 10 cases, with co-amplification of CDK4 (12q14.1) in nine (90%) and MDM2 (12q15) in eight (80%) cases. Targeted exome sequencing performed in three cases confirmed the GLI1, CDK4, and MDM2 co-amplification. Only one case showed the presence of both GLI1 break-apart and amplification, although no gene partner was detected. Our findings suggest that GLI1 amplification, often associated with co-amplifications of CDK4 and MDM2 genes, may represent an alternative genetic mechanism of GLI1 oncogenic activation akin to GLI1 fusions, defining the pathogenesis of an emerging group of malignant soft tissue tumors with a distinctive nested growth pattern and variable immunoprofile.
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