Genotype-Phenotype Correlation in Fibrous Dysplasia/McCune-Albright Syndrome Patients With Craniofacial Lesions.

IF 2.9 3区医学 Q1 DENTISTRY, ORAL SURGERY & MEDICINE

Oral diseases Pub Date : 2025-08-31 DOI:10.1111/odi.70074

Jiang Xue, Xuefen Li, Yanrui Feng, Lisha Sun, Tiejun Li

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引用次数: 0

Abstract

Objectives: We aimed to investigate genotype-phenotype correlations, variant prevalence, and prognostic factors in a Chinese cohort with craniofacial FD/MAS.

Methods: A retrospective study of 93 histologically confirmed FD/MAS cases (2003-2024) analyzed GNAS mutations via direct sequencing. Clinical data, including disease onset, lesion activity (active vs. stable), and extraskeletal manifestations, were correlated with genotypic findings.

Results: R201H was the predominant variant (58.1% vs. 41.9% R201C), with no significant differences in demographics, symptoms, or prognosis between genotypes. Active lesions (34.6%) exhibited earlier disease onset (8.0 vs. 12.0 years, p = 0.026), higher rates of bilateral involvement (51.9% vs. 27.5%, p = 0.033), pain (37.0% vs. 9.8%, p = 0.004), and nasal obstruction (25.9% vs. 2.0%, p = 0.003). MAS was strongly associated with active lesions (25.9% vs. 3.9%, p = 0.026), while monostotic FD predominated in stable lesions. All three cases of osteosarcoma harbored R201C; though statistical significance was not reached.

Conclusions: This study showed no genotype-phenotype correlations in FD/MAS but highlights R201H as the major variant in this population. Active lesions correlate with early onset, bilateral craniofacial involvement, and MAS, warranting close monitoring. R201C's link to malignancy, though inconclusive, suggests possible variant-specific differences in malignant transformation.

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纤维结构不良/麦丘内-奥尔布赖特综合征伴颅面病变患者的基因型-表型相关性

目的：我们旨在研究中国颅面FD/MAS患者的基因型-表型相关性、变异患病率和预后因素。方法：回顾性研究93例组织学证实的FD/MAS病例（2003-2024），通过直接测序分析GNAS突变。临床数据，包括疾病发病、病变活动性（活跃与稳定）和骨骼外表现，与基因型结果相关。结果：R201H是主要变异（58.1% vs. 41.9% R201C），基因型之间在人口统计学、症状或预后方面无显著差异。活动性病变（34.6%）表现为发病较早（8.0年对12.0年，p = 0.026）、双侧受累率较高（51.9%对27.5%,p = 0.033）、疼痛（37.0%对9.8%,p = 0.004）和鼻塞（25.9%对2.0%,p = 0.003）。MAS与活动性病变密切相关（25.9% vs. 3.9%, p = 0.026），而单一FD在稳定性病变中占优势。3例骨肉瘤均含R201C；虽然没有达到统计学意义。结论：本研究显示FD/MAS中没有基因型-表型相关性，但强调R201H是该人群的主要变异。活动性病变与早期发病、双侧颅面受累和MAS相关，需要密切监测。R201C与恶性肿瘤的联系，虽然不确定，但表明在恶性转化中可能存在变异特异性差异。

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来源期刊

Oral diseases 医学-牙科与口腔外科

CiteScore

7.60

自引率

5.30%

发文量

325

审稿时长

4-8 weeks

期刊介绍： Oral Diseases is a multidisciplinary and international journal with a focus on head and neck disorders, edited by leaders in the field, Professor Giovanni Lodi (Editor-in-Chief, Milan, Italy), Professor Stefano Petti (Deputy Editor, Rome, Italy) and Associate Professor Gulshan Sunavala-Dossabhoy (Deputy Editor, Shreveport, LA, USA). The journal is pre-eminent in oral medicine. Oral Diseases specifically strives to link often-isolated areas of dentistry and medicine through broad-based scholarship that includes well-designed and controlled clinical research, analytical epidemiology, and the translation of basic science in pre-clinical studies. The journal typically publishes articles relevant to many related medical specialties including especially dermatology, gastroenterology, hematology, immunology, infectious diseases, neuropsychiatry, oncology and otolaryngology. The essential requirement is that all submitted research is hypothesis-driven, with significant positive and negative results both welcomed. Equal publication emphasis is placed on etiology, pathogenesis, diagnosis, prevention and treatment.