Guimarães Letícia Martins, Martins-Chaves Roberta Rayra, Chabot Priscila Quintino, Schreuder Willem H, de Castro Wagner Henriques, Gomez Ricardo Santiago, Gomes Carolina Cavaliéri
Department of Pathology, Biological Science Institute, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
Oral Surg Oral Med Oral Pathol Oral Radiol. 2023 Mar;135(3):e68-e73. doi: 10.1016/j.oooo.2022.10.005. Epub 2022 Oct 21.
Sporadic central giant cell granulomas of the jaws (GCGJ) are often solitary lesions, characterized by KRAS, FGFR1, and TRPV4 somatic mutations. Multifocal lesions may occur and are associated with hyperparathyroidism or underlying syndromes such as cherubism, which is marked by SH3BP2 mutations, and RASopathies, which are caused by mutations in the FGFR-RAS-RAF-MEK-ERK signaling cascade. The diagnosis of multiple GCGJ can be challenging. The present case reports a 14-year-old boy with multiple central GCGJ and no obvious syndromic trait. Sanger sequencing-based analysis revealed wild-type sequences for SH3BP2 (exon 9), KRAS (exons 2-4), and FGFR1 (exons 9 and 10) genes. A rare TRPV4 somatic mutation (p.Val708Met) was detected in the lesion on the right side of the mandible, whereas the other tumor and the normal oral mucosa revealed wild-type TRPV4 sequences. This report expands the spectrum of TRPV4 somatic mutations in central GCGJ.
颌骨散发性中央巨细胞肉芽肿（GCGJ）通常为孤立性病变，其特征为KRAS、FGFR1和TRPV4体细胞突变。多灶性病变可能会出现，并与甲状旁腺功能亢进或潜在综合征相关，如以SH3BP2突变为特征的 cherubism，以及由FGFR-RAS-RAF-MEK-ERK信号级联突变引起的RASopathies。多发性GCGJ的诊断可能具有挑战性。本病例报告了一名14岁男孩，患有多发性中央GCGJ且无明显综合征特征。基于桑格测序的分析显示SH3BP2（第9外显子）、KRAS（第2-4外显子）和FGFR1（第9和10外显子）基因的野生型序列。在右侧下颌骨病变中检测到罕见的TRPV4体细胞突变（p.Val708Met），而其他肿瘤和正常口腔黏膜显示TRPV4野生型序列。本报告扩展了中央GCGJ中TRPV4体细胞突变的谱。
