Song Xiaowen, Li Zhi
Department of Radiology, Center of Interventional Radiology and Vascular Surgery, Zhongda Hospital, Medical School, Southeast University, Nanjing, 210009, Jiangsu Province, China.
Basic Medicine Research and Innovation Center of Ministry of Education, Zhongda Hospital, Southeast University, Nanjing, 210009, Jiangsu Province, China.
Orphanet J Rare Dis. 2024 Jan 30;19(1):30. doi: 10.1186/s13023-024-03032-0.
The co-existence of meningioma and craniofacial fibrous dysplasia (CFD) is rare. Due to the similar radiological characteristics, it is challenging to differentiate such co-existence from solitary hyperostotic meningioma resulting in a dilemma of prompt diagnosis and appropriate intervention.
We conducted a retrospective review of the data from 21 patients with concomitant meningioma and CFD who were treated at Beijing Tiantan Hospital from 2003 to 2021. We summarized their clinicopathological features and performed a comprehensive literature review. Additionally, we tested the characteristic pathogenic variants in exon 8 and 9 of GNAS gene and the expression of corresponding α-subunit of the stimulatory G protein (Gα) related to CFD to explore the potential interactions between these two diseases.
The cohort comprised 4 men and 17 women (mean age, 45.14 years). CFD most commonly involved the sphenoid bone (n = 10) and meningiomas were predominantly located at the skull base (n = 12). Surgical treatment was performed in 4 CFD lesions and 14 meningiomas. Simpson grade I-II resection was achieved in 12 out of the 14 resected meningiomas and almost all of them were classified as WHO I grade (n = 13). The mean follow-up duration was 56.89 months and recurrence was noticed in 2 cases. Genetic study was conducted in 7 tumor specimens and immunohistochemistry was accomplished in 8 samples showing that though GNAS variant was not detected, Gα protein were positively expressed in different degrees.
We presented an uncommon case series of co-diagnosed meningioma and CFD and provided a detailed description of its clinicopathological features, treatment strategy and prognosis. Although a definite causative relationship had not been established, possible genetic or environmental interplay between these two diseases could not be excluded. It was challenging to initiate prompt diagnosis and appropriate treatment for concomitant meningioma and CFD because of its similar radiological manifestations to meningioma with reactive hyperostosis. Personalized and multi-disciplinary management strategies should be adopted for the co-existence of meningioma and CFD.
脑膜瘤与颅面骨纤维发育不良（CFD）并存的情况较为罕见。由于二者影像学特征相似，鉴别这种并存情况与孤立性骨质增生性脑膜瘤具有挑战性，这导致了快速诊断和恰当干预的困境。
我们对2003年至2021年在北京天坛医院接受治疗的21例合并脑膜瘤和CFD的患者的数据进行了回顾性分析。我们总结了他们的临床病理特征，并进行了全面的文献综述。此外，我们检测了GNAS基因第8和9外显子的特征性致病变异以及与CFD相关的刺激性G蛋白（Gα）相应α亚基的表达，以探讨这两种疾病之间的潜在相互作用。
该队列包括4名男性和17名女性（平均年龄45.14岁）。CFD最常累及蝶骨（n = 10），脑膜瘤主要位于颅底（n = 12）。对4个CFD病灶和14个脑膜瘤进行了手术治疗。14例切除的脑膜瘤中有12例实现了辛普森I-II级切除，几乎所有病例均被分类为世界卫生组织I级（n = 13）。平均随访时间为56个月89天，2例出现复发。对7个肿瘤标本进行了基因研究，对8个样本进行了免疫组织化学检测，结果显示虽然未检测到GNAS变异，但Gα蛋白呈不同程度的阳性表达。
我们展示了一组罕见的同时诊断为脑膜瘤和CFD的病例系列，并详细描述了其临床病理特征、治疗策略和预后。虽然尚未确定明确的因果关系，但不能排除这两种疾病之间可能存在的遗传或环境相互作用。由于其与伴有反应性骨质增生的脑膜瘤影像学表现相似，对合并脑膜瘤和CFD进行快速诊断和恰当治疗具有挑战性。对于脑膜瘤和CFD并存的情况，应采用个性化的多学科管理策略。
