{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T11:23:13Z","timestamp":1787656993559,"version":"build-2736575974"},"reference-count":17,"publisher":"BMJ","issue":"8","license":[{"start":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T00:00:00Z","timestamp":1787616000000},"content-version":"unspecified","delay-in-days":24,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,8,4]]},"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:p>Glioma-associated oncogene homologue 1-altered mesenchymal tumours (GLI1-AMT) are rare, recently characterised soft tissue neoplasms driven by GLI1 fusions or amplifications. They predominantly arise in the head and neck, though their full clinicopathological presentation remains variable.<\/jats:p>\n                  <jats:p>A female in her 30s with a year-long history of progressive dysphagia was found to have a GLI1-AMT of the upper oesophageal sphincter, the first known case at this site. She underwent laser excision of the mass with adjuvant radiotherapy with no disease recurrence to date.<\/jats:p>\n                  <jats:p>Literature review identified 42 additional cases in the head and neck, most commonly affecting the tongue. Genetic alterations include GLI1 amplifications, frequently co-amplified with CDK4 and MDM2, and fusions, typically with ACTB, PTCH1 or MALAT1. Immunohistochemical staining patterns are inconsistent, though CD56, S100 and MDM2 are frequently positive.<\/jats:p>\n                  <jats:p>Classification of GLI1-AMT has evolved over recent years, and research is needed to refine diagnostic criteria and elucidate the behaviour of this spectrum of neoplasms.<\/jats:p>","DOI":"10.1136\/bcr-2026-272971","type":"journal-article","created":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T11:05:17Z","timestamp":1787655917000},"page":"e272971","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Glioma-associated oncogene homolog 1-altered mesenchymal tumour of the upper oesophageal sphincter"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-5887-408X","authenticated-orcid":false,"given":"Sage","family":"Hebert","sequence":"first","affiliation":[{"name":"School of Medicine, Louisiana State University Health Sciences Centre Shreveport, Shreveport, Louisiana, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mallory","family":"Peters","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head & Neck Surgery, Louisiana State University Health Sciences Centre Shreveport, Shreveport, Louisiana, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Areli","family":"Cuevas-Ocampo","sequence":"additional","affiliation":[{"name":"Department of Pathology, Louisiana State University Health Sciences Centre Shreveport, Shreveport, Louisiana, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karuna","family":"Dewan","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head & Neck Surgery, Louisiana State University Health Sciences Centre Shreveport, Shreveport, Louisiana, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,8,25]]},"reference":[{"key":"2026082504051203000_19.8.e272971.1","doi-asserted-by":"crossref","first-page":"100386","DOI":"10.1016\/j.modpat.2023.100386","article-title":"GLI1-Altered Mesenchymal Tumors With ACTB or PTCH1 Fusion: A Molecular and Clinicopathologic Analysis","volume":"37","author":"Kerr","year":"2024","journal-title":"Mod Pathol"},{"key":"2026082504051203000_19.8.e272971.2","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.path.2023.06.004","article-title":"GLI1-Altered Mesenchymal Tumors","volume":"17","author":"Cloutier","year":"2024","journal-title":"Surg Pathol Clin"},{"key":"2026082504051203000_19.8.e272971.3","doi-asserted-by":"crossref","DOI":"10.1097\/PAS.0000000000001979","article-title":"Distinctive Nested Glomoid Neoplasm: Clinicopathologic Analysis of 20 Cases of a Mesenchymal Neoplasm With Frequent: GLI1: Alterations and Indolent Behavior","volume":"47","author":"Papke","year":"2023","journal-title":"Am J Surg Pathol"},{"key":"2026082504051203000_19.8.e272971.4","doi-asserted-by":"crossref","first-page":"100635","DOI":"10.1016\/j.modpat.2024.100635","article-title":"GLI1-Altered Mesenchymal Tumor-Multiomic Characterization of a Case Series and Patient-Level Meta-analysis of One Hundred Sixty-Seven Cases for Risk Stratification","volume":"38","author":"Yeung","year":"2025","journal-title":"Mod Pathol"},{"key":"2026082504051203000_19.8.e272971.5","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-021-03224-0"},{"key":"2026082504051203000_19.8.e272971.6","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1097\/PAS.0000000000001439","article-title":"Head and Neck Mesenchymal Neoplasms With GLI1 Gene Alterations: A Pathologic Entity With Distinct Histologic Features and Potential for Distant Metastasis","volume":"44","author":"Xu","year":"2020","journal-title":"Am J Surg Pathol"},{"key":"2026082504051203000_19.8.e272971.7","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001010"},{"key":"2026082504051203000_19.8.e272971.8","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-019-0293-x"},{"key":"2026082504051203000_19.8.e272971.9","doi-asserted-by":"crossref","first-page":"e14","DOI":"10.1016\/j.oooo.2021.10.007","article-title":"GLI1-altered epithelioid soft tissue tumor: A newly described entity with a predilection for the tongue","volume":"134","author":"Zhong","year":"2022","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol"},{"key":"2026082504051203000_19.8.e272971.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63723-6"},{"key":"2026082504051203000_19.8.e272971.11","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1007\/s12105-021-01388-4","article-title":"Epithelioid Soft Tissue Neoplasm of the Soft Palate with a PTCH1-GLI1 Fusion: A Case Report and Review of the Literature","volume":"16","author":"Klub\u00ed\u010dkov\u00e1","year":"2022","journal-title":"Head Neck Pathol"},{"key":"2026082504051203000_19.8.e272971.12","doi-asserted-by":"crossref","first-page":"e93","DOI":"10.1016\/j.joms.2021.08.128","article-title":"A Rare Case of a GLI1-ACTB-rearranged Mesenchymal Tumor of the Tongue in an 8-year-old Boy","volume":"79","author":"Khan","year":"2021","journal-title":"J Oral Maxillofac Surg"},{"key":"2026082504051203000_19.8.e272971.13","doi-asserted-by":"crossref","first-page":"105897","DOI":"10.1016\/j.oraloncology.2022.105897","article-title":"GLI1 amplified\/fused mesenchymal tumor: A case report and review of the literature","volume":"129","author":"Liu","year":"2022","journal-title":"Oral Oncol"},{"key":"2026082504051203000_19.8.e272971.14","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1007\/s12105-022-01476-z","article-title":"GLI1-Altered Soft Tissue Tumors of the Head and Neck: Frequent Oropharyngeal Involvement, p16 Immunoreactivity, and Detectable Alterations by DDIT3 Break Apart FISH","volume":"16","author":"Palsgrove","year":"2022","journal-title":"Head Neck Pathol"},{"key":"2026082504051203000_19.8.e272971.15","doi-asserted-by":"crossref","first-page":"E223","DOI":"10.1002\/dc.24971","article-title":"Fine needle aspiration biopsy of epithelioid-mesenchymal neoplasm with PTCH1-GLI1 fusion: A case report","volume":"50","author":"Shahabi","year":"2022","journal-title":"Diagn Cytopathol"},{"key":"2026082504051203000_19.8.e272971.16","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1177\/10668969231216986","article-title":"GLI1-Altered Soft Tissue Tumor in the Tongue-A Case Report and Literature Review","volume":"32","author":"Tse","year":"2024","journal-title":"Int J Surg Pathol"},{"key":"2026082504051203000_19.8.e272971.17","first-page":"822","article-title":"GLI1-altered mesenchymal tumor of tongue: a case report and literature review","volume":"42","author":"Xie","year":"2024","journal-title":"Hua Xi Kou Qiang Yi Xue Za Zhi"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-272971","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T11:05:19Z","timestamp":1787655919000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-272971"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":17,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2026,8,25]]},"published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1136\/bcr-2026-272971"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-272971","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8]]}}}