Pleural‐Based <i>GLI1</i> ‐Altered Mesenchymal Tumor With <i>ACTB‐GLI1</i> Fusion: A Rare Pulmonary Entity Mimicking Synovial Sarcoma

GLI1-altered mesenchymal tumors are exceptionally rare mesenchymal tumors, with recent molecular studies implicating GLI1 gene fusion or amplification. We report a 39-year-old nonsmoking woman who presented with an incidentally detected right pleural-based mass. Cross-sectional imaging identified a paraspinal pleural lesion at the T5-T6 level without intraspinal extension. Video-assisted thoracoscopic resection revealed a biphasic tumor and next-generation sequencing confirmed an ACTB-GLI1 fusion. The diagnosis of GLI1-altered mesenchymal tumor was established. After multidisciplinary discussion, the patient opted for radiologic surveillance instead of adjuvant therapy. She remains disease-free at 1-year follow-up. This case expands the anatomic spectrum of GLI1-altered tumors and underscores the value of molecular testing in distinguishing them from other pleural neoplasms.

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Publication Details

Journal
Thoracic Cancer
Published
2026-03-26
DOI
https://doi.org/10.1111/1759-7714.70271
Primary Topic
Hedgehog Signaling Pathway Studies
Type
article
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article

Pleural‐Based GLI1 ‐Altered Mesenchymal Tumor With ACTB‐GLI1 Fusion: A Rare Pulmonary Entity Mimicking Synovial Sarcoma

Marco Lizwan, Boon‐Hean Ong, Chun Yuen Chow, Hiu Yeung Lau et al.
Thoracic Cancer
Hedgehog Signaling Pathway Studies
article

Pleural‐Based GLI1 ‐Altered Mesenchymal Tumor With ACTB‐GLI1 Fusion: A Rare Pulmonary Entity Mimicking Synovial Sarcoma

Marco Lizwan, Boon‐Hean Ong, Chun Yuen Chow, Hiu Yeung Lau, Li Xiao
article en

Abstract

GLI1-altered mesenchymal tumors are exceptionally rare mesenchymal tumors, with recent molecular studies implicating GLI1 gene fusion or amplification. We report a 39-year-old nonsmoking woman who presented with an incidentally detected right pleural-based mass. Cross-sectional imaging identified a paraspinal pleural lesion at the T5-T6 level without intraspinal extension. Video-assisted thoracoscopic resection revealed a biphasic tumor and next-generation sequencing confirmed an ACTB-GLI1 fusion. The diagnosis of GLI1-altered mesenchymal tumor was established. After multidisciplinary discussion, the patient opted for radiologic surveillance instead of adjuvant therapy. She remains disease-free at 1-year follow-up. This case expands the anatomic spectrum of GLI1-altered tumors and underscores the value of molecular testing in distinguishing them from other pleural neoplasms.

Thoracic CancerVol. 17(7)
Singapore General Hospital (SG), KK Women's and Children's Hospital (SG), National Heart Centre Singapore (SG)
Good health and well-being, Gender equality
Openalex Percentile: Top 6%
Hedgehog Signaling Pathway Studies
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Pleural‐Based <i>GLI1</i> ‐Altered Mesenchymal Tumor With <i>ACTB‐GLI1</i> Fusion: A Rare Pulmonary Entity Mimicking Synovial Sarcoma — Marco Lizwan, Boon‐Hean Ong, et al. · Thoracic Cancer (2026) | TGRS Research Map | TGRS