马扎布劳德综合征的流行情况和临床特征：一项多中心的欧洲研究。

Prevalence and Clinical Features of Mazabraud Syndrome: A Multicenter European Study.

机构信息

Department of Orthopaedic Surgery (B.C.J.M., M.A.J.v.d.S., and S.P.D.D.), Endocrinology Division, Department of Medicine (N.M.A.-D. and N.A.T.H.), and Department of Pathology (J.V.M.G.B.), Leiden University Medical Center, Leiden, the Netherlands.

Department of Orthopaedic Surgery, Medical University of Graz, Graz, Austria.

出版信息

J Bone Joint Surg Am. 2019 Jan 16;101(2):160-168. doi: 10.2106/JBJS.18.00062.

DOI:10.2106/JBJS.18.00062

PMID:30653046

Abstract

BACKGROUND

Mazabraud syndrome is a rare disorder, characterized by the presence of fibrous dysplasia (FD) with associated intramuscular myxomas. Data are scarce on the prevalence, clinical features, and natural history of this disorder and outcomes. In this multicenter study, we evaluated a series of patients from 6 European centers.

METHODS

All centers affiliated with the European Musculo-Skeletal Oncology Society (EMSOS) were invited to include data on all patients with Mazabraud syndrome who were seen between 1980 and 2015. The study investigated the prevalence of Mazabraud syndrome, the type, severity, and localization of FD lesions in relation to myxomas, the histopathology of myxomas, and results of GNAS-mutation analysis, when available.

RESULTS

Thirty-two patients (22 female) from 6 centers were included. The prevalence of Mazabraud syndrome was 2.2% in the combined cohort of 1,446 patients with FD, and the syndrome was diagnosed at a mean of 10.1 years after diagnosis of FD. The myxomas were predominantly localized in the upper leg. Excision was performed in 20 patients, recurrence occurred in 6 of these patients (30%) at a median of 8.5 years (range, 1.9 to 16.0 years), and revision surgery was necessary in 5 (25%). High cellularity of myxomas was associated with recurrence (p < 0.05). A GNAS mutation was identified in the myxoma tissue of 5 (83%) of 6 patients with GNAS-mutation analysis.

CONCLUSIONS

This study is the first, to our knowledge, to provide data on the prevalence of Mazabraud syndrome in a relatively large cohort. Although the outcomes of surgical resection were good, a quarter of the patients required revision surgery despite clear resection margins. High cellularity of myxomas was associated with recurrence. GNAS mutations were identified in 83% (5 of 6), emphasizing the shared origin of FD and myxomas. Our data show that patients with FD who have disproportionate complaints, irrespective of FD type, extent, or severity, should be investigated for the possible presence of myxomas.

LEVEL OF EVIDENCE

Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.

摘要

背景

Mazabraud 综合征是一种罕见的疾病，其特征为纤维结构不良（FD）伴发肌内黏液瘤。目前对于该疾病的患病率、临床特征、自然病史和结局的数据较为缺乏。在这项多中心研究中，我们评估了来自 6 个欧洲中心的一系列患者。

方法

所有隶属于欧洲肌肉骨骼肿瘤学会（EMSOS）的中心均受邀纳入 1980 年至 2015 年间确诊的 Mazabraud 综合征患者的数据。该研究调查了 Mazabraud 综合征的患病率、FD 病变的类型、严重程度和定位与黏液瘤的关系、黏液瘤的组织病理学以及 GNAS 基因突变分析的结果（如果有）。

结果

来自 6 个中心的 32 名患者（22 名女性）被纳入研究。在合并的 1446 例 FD 患者队列中，Mazabraud 综合征的患病率为 2.2%，并且该综合征在 FD 确诊后平均 10.1 年被诊断。黏液瘤主要位于大腿。20 名患者接受了切除术，其中 6 名患者（30%）在中位数为 8.5 年（范围，1.9 至 16.0 年）时复发，5 名患者（25%）需要进行再次手术。黏液瘤的高度细胞性与复发相关（p < 0.05）。在接受 GNAS 基因突变分析的 6 名患者中的 5 名（83%）黏液瘤组织中发现了 GNAS 突变。

结论

据我们所知，这项研究首次提供了相对较大队列中 Mazabraud 综合征患病率的数据。尽管手术切除的结果良好，但尽管有明确的切除边界，仍有四分之一的患者需要再次手术。黏液瘤的高度细胞性与复发相关。在 6 名患者中的 5 名（83%）中发现了 GNAS 突变，这强调了 FD 和黏液瘤的共同起源。我们的数据表明，患有 FD 的患者如果出现不成比例的症状，无论 FD 的类型、程度或严重程度如何，都应进行黏液瘤的检查。