Department of Neurosurgery, Children's Hospital, London Health Sciences Center, London, Canada.
Neurosurgery. 2009 Dec;65(6):1106-13; discussion 1113-5. doi: 10.1227/01.NEU.0000356984.92242.D5.
Ollier disease (OD) and Maffucci syndrome are closely related, very rare syndromes, that are both associated with multiple sites of chondrodysplasia. They differ primarily with the additional association of Maffucci syndrome with vascular abnormalities, including hemangiomas. Both are associated with chondrosarcomas and other nonsarcomatous neoplasms (NSN), but Maffucci syndrome is thought to have greater malignancy potential. We examined whether OD and Maffucci syndrome differ in the number, histology, in the location of intracranial malignancies, and in the demographics of such patients, as reported in the medical literature.
Relevant cases were identified by electronic searches on PubMed, SciSearch, Scientific Commons, Springer Link, and Google. Translate DotNet and Babelfish were used to translate non-English text. Unpaired Student's t tests were used to compare OD and Maffucci syndrome, and chondrosarcoma and NSN patients for mean age; Pearson chi analysis was used for comparisons of gender distribution, geographical distribution (by continent), site of lesion, and for OD versus Maffucci syndrome, tumor type (chondrosarcoma versus NSN).
Forty-six patients with 47 intracranial malignancies were identified: 24 with OD, including 6 with a chondrosarcoma and 18 with an NSN; and 22 with Maffucci syndrome, including 13 with a chondrosarcoma, 8 with an NSN, and 1 with both. The 2 syndromes were statistically different in the distribution of chondrosarcomas versus NSNs (P = 0.002). All chondrosarcomas originated at the base of the cranium. All 18 NSNs in OD were of glial cell origin, but only 5 of 9 NSNs in Maffucci syndrome were glial; other tumors included pituitary adenoma, olfactory neuroblastoma, malignant chordoma, and spindle cell hemangioendothelioma. Patients with OD were more than 10 years younger than their Maffucci syndrome counterparts (24.7 versus 34.9 years; P = 0.002), as were patients with OD and chondrosarcoma versus those with Maffucci syndrome and chondrosarcoma (24.7 versus 36.2 years; P = 0.035). The 2 syndromes did not differ in overall sex distribution. OD and Maffucci syndrome differed in geographical distribution, with 10 Maffucci syndrome but no OD patients with malignancy either in Asia (7 patients) or South America (3 patients). Among NSNs, OD and Maffucci syndrome did not differ as to site of lesion within the brain.
OD and Maffucci syndrome differ with respect to the distribution of intracranial malignancies by histology, and geographical and age distribution of cases, with OD patients younger by approximately a decade, and Maffucci syndrome patients more likely to live in Asia or South America.
奥利耶病（OD）和马富西综合征是密切相关的、非常罕见的综合征，两者均与多处软骨发育不良有关。它们的主要区别在于马富西综合征还伴有血管异常，包括血管瘤。两者均与软骨肉瘤和其他非肉瘤性肿瘤（NSN）相关，但马富西综合征被认为具有更大的恶性潜能。我们通过查阅医学文献，研究了 OD 和马富西综合征在颅内恶性肿瘤的数量、组织学、位置以及患者人口统计学方面是否存在差异。
通过在 PubMed、SciSearch、Scientific Commons、Springer Link 和 Google 上进行电子检索，确定了相关病例。使用 Translate DotNet 和 Babelfish 将非英语文本进行翻译。使用独立样本 t 检验比较 OD 和马富西综合征以及软骨肉瘤和 NSN 患者的平均年龄；使用 Pearson 卡方分析比较性别分布、地理分布（按大陆）、病变部位以及 OD 与马富西综合征、肿瘤类型（软骨肉瘤与 NSN）。
共确定了 46 例颅内恶性肿瘤患者，其中 47 例：24 例 OD，包括 6 例软骨肉瘤和 18 例 NSN；22 例马富西综合征，包括 13 例软骨肉瘤、8 例 NSN 和 1 例同时存在软骨肉瘤和 NSN。这两种综合征在软骨肉瘤与 NSN 的分布上存在统计学差异（P=0.002）。所有软骨肉瘤均起源于颅底。OD 中的 18 例 NSN 均为神经胶质细胞起源，但马富西综合征中的 9 例 NSN 中仅有 5 例为神经胶质细胞起源；其他肿瘤包括垂体腺瘤、嗅神经母细胞瘤、恶性脊索瘤和梭形细胞血管内皮细胞瘤。OD 患者比马富西综合征患者年轻 10 岁以上（24.7 岁比 34.9 岁；P=0.002），OD 患者伴软骨肉瘤与马富西综合征伴软骨肉瘤患者相比也更为年轻（24.7 岁比 36.2 岁；P=0.035）。两种综合征的总体性别分布无差异。OD 和马富西综合征在地理分布上存在差异，亚洲（7 例）和南美洲（3 例）各有 10 例马富西综合征但无 1 例 OD 患者患有颅内恶性肿瘤。在 NSN 中，OD 和马富西综合征在颅内病变部位上无差异。
OD 和马富西综合征在颅内恶性肿瘤的组织学、病例的地理和年龄分布上存在差异，OD 患者平均年轻约 10 岁，马富西综合征患者更可能生活在亚洲或南美洲。
