GLI1-Altered Mesenchymal Tumours in the Head and Neck: A Case Report and Literature Review

Background and Clinical Significance: GLI1 gene alterations have recently been identified as a pathological phenomenon associated with a distinct novel entity of mesenchymal neoplasms. They have been reported to occur in any soft tissue of the body, with a specific affinity for the head and neck reg...

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Bibliographic Details
Main Authors: Olivier Janjic, Claudio De Vito, Johannes Alexander Lobrinus, Minerva Becker, Nicolas Dulguerov
Format: Article
Language:English
Published: MDPI AG 2025-01-01
Series:Journal of Otorhinolaryngology, Hearing and Balance Medicine
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Online Access:https://www.mdpi.com/2504-463X/6/1/2
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Summary:Background and Clinical Significance: GLI1 gene alterations have recently been identified as a pathological phenomenon associated with a distinct novel entity of mesenchymal neoplasms. They have been reported to occur in any soft tissue of the body, with a specific affinity for the head and neck region. The aim of this article is to increase awareness of this entity and provide a detailed summary of the modes of presentation and diagnostic and therapeutic issues surrounding these tumours occurring in the head and neck region. Case Presentation: We report the case of a 39-year-old male patient with ACTB::GLI1 fusion-related mesenchymal tongue tumour who was successfully treated by surgery. Conclusions: GLI1-altered mesenchymal tumours in the head and neck may harbour various clinical presentations. Larger series are needed to better define the clinicopathological range of this novel entity. We suggest a follow-up period of at least 2 years with imaging, followed by a clinical follow-up of 3 years. Certain clinicopathological features may warrant further and more extensive follow-up.
ISSN:2504-463X