MEN1基因突变致同胞共患颌骨骨化纤维瘤2例

doi:10.13701/j.cnki.kqyxyj.2026.06.013

口腔医学研究 ›› 2026, Vol. 42 ›› Issue (6): 534-536.DOI: 10.13701/j.cnki.kqyxyj.2026.06.013

MEN1基因突变致同胞共患颌骨骨化纤维瘤2例

张兰兰¹, 刘明莉¹, 崔庆赢¹, 李亮¹, 孙思扬¹, 施延安¹, 李柯成¹, 张永辉², 王卫红^1*

1.云南省口腔医学重点实验室,昆明医科大学附属口腔医院口腔颌面外科云南昆明 650106;
2.云南省口腔医学重点实验室,昆明医科大学附属口腔医院影像科云南昆明 650031

收稿日期:2025-08-05 出版日期:2026-06-28 发布日期:2026-06-23
通讯作者: ^*王卫红,E-mail:wangweihong@kmmu.edu.cn
作者简介:张兰兰(1997~),女,河南驻马店人,博士在读,研究方向:颌面部肿瘤。
基金资助:
云南省卫健委医学领军人才项目(编号:L-2018010);云南省科技厅昆明医科大学基础研究联合专项重点项目(编号:202501AY070001-016)

MEN1 Mutation in Two Siblings with Ossifying Fibroma of the Jaw

ZHANG Lanlan¹, LIU Mingli¹, CUI Qingying¹, LI Liang¹, SUN Siyang¹, SHI Yan'an¹, LI Kecheng¹, ZHANG Yonghui², WANG Weihong^1*

1. Yunnan Key Laboratory of Stomatology & Department of Oral and Maxillofacial Surgery, The Affiliated Stomatology Hospital, Kunming Medical University, Kunming 650106, China;
2. Yunnan Key Laboratory of Stomatology & Department of Radiology, The Affiliated Stomatology Hospital, Kunming Medical University, Kunming 650031, China

Received:2025-08-05 Online:2026-06-28 Published:2026-06-23

摘要/Abstract

摘要： 本研究在2例经病理确诊的颌骨骨化纤维瘤患者中发现多发性内分泌肿瘤Ⅰ型(multiple endocrine neoplasia type 1,MEN1)基因第10外显子错义突变(p.Thr541Ala),全外显子测序结合生物信息学分析提示该突变具有致病性。通过AlphaFold 2蛋白结构预测发现突变导致结构域空间位移及疏水核心破坏,提示MEN1功能缺陷可能参与颌骨骨化纤维瘤发病机制。这一发现为纤维-骨性病损的分子诊断提供了新依据,但其具体致病机制仍需进一步研究验证。

关键词: 骨化纤维瘤, MEN1基因, 基因突变

Abstract: This study identified a heterozygous missense mutation (p.Thr541Ala) in exons 10 of the multiple endocrine neoplasia type 1 (MEN1) gene in two male patients diagnosed with histopathologically confirmed ossifying fibroma of the jaw. Whole-exome sequencing combined with bioinformatics analysis confirmed the pathogenic potential of this variant. AlphaFold 2-based structural modeling demonstrated that this variant induces conformational changes in the functional domain and disrupts the hydrophobic core, suggesting MEN1 functional impairment may contribute to the pathogenesis ofossifying fibroma of the jaw. These findings provide novel insights into the molecular diagnosis of fibro-osseous lesions. However, the precise pathogenic mechanisms underlying this association require further investigation.

Key words: ossifying fibroma, MEN1 gene, gene mutation

张兰兰, 刘明莉, 崔庆赢, 李亮, 孙思扬, 施延安, 李柯成, 张永辉, 王卫红. MEN1基因突变致同胞共患颌骨骨化纤维瘤2例[J]. 口腔医学研究, 2026, 42(6): 534-536.

ZHANG Lanlan, LIU Mingli, CUI Qingying, LI Liang, SUN Siyang, SHI Yan'an, LI Kecheng, ZHANG Yonghui, WANG Weihong. MEN1 Mutation in Two Siblings with Ossifying Fibroma of the Jaw[J]. Journal of Oral Science Research, 2026, 42(6): 534-536.

参考文献

[1] 高岩.口腔组织病理学[M].第8版.北京:人民卫生出版社,2020:307-309.
[2] Gennaro P, Gennari L, Latini L, et al. Maxillofacial bone involvement in fibro-osseous lesions: Emphasizing the significance of differential diagnosis[J]. J Clin Med, 2024, 13(11): 3233.
[3] Blitzer A, Post KD, Conley J. Craniofacial resection of ossifying fibromas and osteomas of the sinuses[J]. Arch Otolaryngol Head Neck Surg, 1989, 115(9): 1112-1115.
[4] Gezici AR,Ergün R. Giant ossifying fibroma complicated by mucocele of sphenoid sinus-case report[J]. Neurol Neurochir Pol, 2008, 42(5): 467-469.
[5] Sowa H, Kaji H, Hendy GN, et al. Menin is required for bone morphogenetic protein 2- and transforming growth factor beta-regulated osteoblastic differentiation through interaction with Smads and Runx2[J]. J Biol Chem, 2004, 279(39): 40267-40275.
[6] 段小红,马坚,王卫红,等.口腔罕见病名录(第1版)[J].中华口腔医学杂志,2020,55(7): 494-500.
[7] Majer AD, Hua X, Katona BW. Menin in cancer[J]. Genes (Basel), 2024, 15(9): 1231.
[8] Lanzaro F, De Biasio D, Cesaro FG, et al. Childhood multiple endocrine neoplasia (MEN) syndromes: Genetics, clinical heterogeneity and modifying genes[J]. J Clin Med, 2024, 13(18): 5510.
[9] Jiang H, Zhang W, Xu X, et al. Decoding the genetic puzzle: Mutations in key driver genes of pancreatic neuroendocrine tumors[J]. Biochim Biophys Acta Rev Cancer, 2025, 1880(3): 189305.
[10] Lee S, Liu P, Teinturier R, et al. Deletion of Menin in craniofacial osteogenic cells in mice elicits development of mandibular ossifying fibroma[J]. Oncogene, 2018, 37(5): 616-626.
[11] 张兰兰,王卫红.多骨性骨纤维异常增殖症伴GNAS新错义突变1例[J].口腔医学研究,2024,40(9): 837-839.
[12] Di Zanni E, Gradogna A, Picco C, et al. TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling[J]. Hum Mutat, 2020, 41(6): 1157-1170.
[13] 张舒婷,关海霞. 多发性内分泌腺瘤病1型的研究进展[J].临床外科杂志,2023,31(3): 201-204.

MEN1基因突变致同胞共患颌骨骨化纤维瘤2例

MEN1 Mutation in Two Siblings with Ossifying Fibroma of the Jaw

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