Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation

Taeko Fukutani, Shigeaki Toratani, Taku Kanda, Kensaku Matsui, Sachiko Yamasaki, Kensaku Sumi, Ikuko Ogawa and Souichi Yanamoto
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Taeko Fukutani: Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan
Shigeaki Toratani: Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan
Taku Kanda: Department of Oral and Maxillofacial Surgery, Hiroshima Prefectural Hospital, Hiroshima 734-8530, Japan
Kensaku Matsui: Department of Oral and Maxillofacial Surgery, Hiroshima Prefectural Hospital, Hiroshima 734-8530, Japan
Sachiko Yamasaki: Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan
Kensaku Sumi: Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan
Ikuko Ogawa: Center of Oral Clinical Examination, Hiroshima University Hospital, Hiroshima 734-8553, Japan
Souichi Yanamoto: Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan

IJERPH, 2022, vol. 19, issue 8, 1-10

Abstract: Synovial chondromatosis (SC) is a rare benign disease involving multifocal generation of ectopic cartilage in the synovial tissue. Herein, we report two cases of SC in the temporomandibular joint: a 38-year-old woman (patient 1) and 39-year-old woman (patient 2). Both patients had trismus, jaw joint noises, and jaw-opening pain in the temporomandibular joint. Cone-beam computed tomography (CT) and magnetic resonance imaging (MRI) in patient 1 showed multiple calcified loose bodies around the right mandibular condyle. In addition, CT and MRI in patient 2 showed multiple calcified loose bodies around the left mandibular condyle and temporal bone perforation. Following establishing a diagnosis of SC, both patients underwent tumor resection via open surgery. In immunohistochemical examinations of the resected tissues, tumor cells showed intense nuclear staining with labeled anti- Gli1 antibody. Gene sequencing revealed that both patients had a homozygous mutation in the Gli1 gene (rs2228226 G>C). In conclusion, we suggest that the Gli1 gene (rs2228226 G>C) may be involved in the etiology of SC.

Keywords: bone tumor of mandibular condyle; cone-beam computed tomography; magnetic resonance spectroscopy; synovial chondromatosis; temporomandibular joint; trismus; zinc finger protein GLI1 (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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