两例颌骨多发性骨化性纤维瘤。
Two cases of multiple ossifying fibromas in the jaws.
机构信息
Department of Oral Medicine, Hebei United University, School and Hospital of Stomatology, Tangshan, 82 South Construction Road, Hebei 063000, Lubei District, PR China.
出版信息
Diagn Pathol. 2014 Mar 28;9:75. doi: 10.1186/1746-1596-9-75.
BACKGROUND
The clinicopathologic characteristics of multiple ossifying fibroma (OF) are unclear due to the condition's rarity, making diagnosis challenging. Sporadic multiple OFs must be distinguished from hyperparathyroidism-jaw tumour syndrome (HPT-JT) related OF and other fibro-osseous lesions.
METHODS
Multiple OF cases were identified from ossifying fibroma cases. Clinical data including age, sex, anatomic site, radiographic features, clinical impression, treatment and available follow-up data as well as serum calcium, phosphorus, and parathyroid hormone (PTH) were recorded. GNAS and HRPT2 genetic mutations were examined in the two present cases. Case reports of sporadic multiple ossifying fibroma and HPT-JT-related OF were also reviewed.
RESULTS
The two present cases were confirmed as sporadic multiple OF, with no genetic GNAS and HRPT2 mutations found. The incidence of sporadic multiple ossifying fibroma was 2.0% (2/102). The total 18 sporadic multiform OF cases were characterized as followed: 13 (72.2%) female; 5 (27.8%) male; mean age 28.6 years; 2/16 (11.1%) cases only in the mandible; 4/18 (22.2%) cases only in the maxilla; and 12/18 (66.7%) cases in both the maxilla and mandible. Radiographically, the lesions were radiolucent in 5/18 (27.8%) cases and mixed density in 13/18 (72.2%) cases. Along with 24 cases of HPT-JT related OF were reviewed, sixteen (66.7%) patients were diagnosed with a single lesion, and 8 patients (33.3%) were diagnosed with multiple jaw lesions.
CONCLUSIONS
Sporadic multiple OFs are very rare, but must be distinguished from HPT-JT related OF. We strongly recommend that patients diagnosed with multiple ossifying fibromas receive serum PTH testing and mutation screening of HRPT2.
VIRTUAL SLIDES
http://www.diagnosticpathology.diagnomx.eu/vs/1194507146115753.
背景
由于多发性骨化性纤维瘤（OF）较为罕见，其临床病理特征尚不清楚，因此诊断具有挑战性。必须将散发性多发性 OF 与甲状旁腺功能亢进-颌骨肿瘤综合征（HPT-JT）相关的 OF 和其他纤维骨性病变区分开来。
方法
从骨化性纤维瘤病例中确定多发性 OF 病例。记录临床数据，包括年龄、性别、解剖部位、影像学特征、临床印象、治疗及随访情况，以及血清钙、磷和甲状旁腺激素（PTH）水平。检查了两个病例中的 GNAS 和 HRPT2 基因突变。还回顾了散发性多发性骨化性纤维瘤和 HPT-JT 相关 OF 的病例报告。
结果
这两个病例被证实为散发性多发性 OF，未发现 GNAS 和 HRPT2 基因突变。散发性多发性骨化性纤维瘤的发生率为 2.0%（2/102）。总共 18 例散发性多形性 OF 病例的特征如下：13 例（72.2%）为女性；5 例（27.8%）为男性；平均年龄 28.6 岁；2 例（11.1%）仅发生于下颌骨；4 例（22.2%）仅发生于上颌骨；12 例（66.7%）同时发生于上颌骨和下颌骨。影像学上，5 例（27.8%）病变呈透亮，13 例（72.2%）病变呈混合密度。同时回顾了 24 例 HPT-JT 相关 OF 病例，其中 16 例（66.7%）患者诊断为单发病变，8 例（33.3%）患者诊断为多发性颌骨病变。
结论
散发性多发性 OF 非常罕见，但必须与 HPT-JT 相关 OF 区分开来。我们强烈建议诊断为多发性骨化性纤维瘤的患者进行血清 PTH 检测和 HRPT2 基因突变筛查。
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