散发性脑海绵状血管畸形中的单发与多发病变：发育性静脉异常的作用

Single vs. multiple lesions in sporadic cerebral cavernous malformations: the role of developmental venous anomalies.

作者信息

Bektas Delal, Lanzino Giuseppe, Flemming Kelly D

机构信息

Department of Neurosurgery, Mayo Clinic, Rochester, MN, USA.

Department of Neurosurgery, University Hospital Zurich, Zurich, Switzerland.

出版信息

Neurosurg Rev. 2025 Sep 26;48(1):668. doi: 10.1007/s10143-025-03845-y.

DOI:10.1007/s10143-025-03845-y

PMID:41003742

Abstract

This study evaluated clinical and radiological factors associated with lesion multiplicity in sporadic cerebral cavernous malformations (CCMs), focusing on developmental venous anomalies (DVAs) as potential drivers of lesion multiplicity. Data from 269 patients with sporadic CCMs in a prospective registry were analyzed. Demographic, clinical, and radiological variables were collected, and patients were categorized into single or multiple CCM groups. CCM-DVAs were classified into Type I, II, or III based on angioarchitecture. Comparative analyses and multivariate logistic regression identified predictors of lesion multiplicity. The mean age at diagnosis was 45.5 years (SD 15.9); 41.3% of patients were male. Most patients had a single lesion (92.2%, n = 248), while 7.8% (n = 21) had multiple lesions. Lesions were most commonly supratentorial cortical (40.5%, n = 109), followed by the brainstem (26.8%, n = 72) and supratentorial subcortical (24.2%, n = 65). The mean lesion size was 13.2 mm (SD 7.5). DVAs were present in 51.1% of patients (n = 135), with Type I CCM-DVAs accounting for 51.1%, Type II for 32.6%, and Type III for 16.3%. The mean DVA size was 2.3 mm (SD 1.3), with Type III being the largest (mean: 3.82 mm, SD 1.18). CCM-DVA type was significantly associated with lesion multiplicity, and Type II and III were the strongest independent predictors (p = 0.011 and p < 0.001, respectively). Brainstem CCM lesions were also significant in both univariate and multivariate models (p = 0.044). No significant associations were found with modifiable risk factors. This study is the first to systematically evaluate clinical and radiological factors associated with lesion multiplicity in sporadic CCMs. The findings identify CCM-DVA type and brainstem CCM location as key predictors, underscoring the need for further investigation into the genetic and vascular mechanisms driving lesion formation and progression.

摘要

本研究评估了散发性脑海绵状血管畸形（CCM）中与病灶多发性相关的临床和影像学因素，重点关注发育性静脉异常（DVA）作为病灶多发性的潜在驱动因素。对前瞻性登记中269例散发性CCM患者的数据进行了分析。收集了人口统计学、临床和影像学变量，并将患者分为单发或多发CCM组。CCM-DVA根据血管构筑分为I型、II型或III型。比较分析和多因素逻辑回归确定了病灶多发性的预测因素。诊断时的平均年龄为45.5岁（标准差15.9）；41.3%的患者为男性。大多数患者有单个病灶（92.2%，n = 248），而7.8%（n = 21）有多个病灶。病灶最常见于幕上皮质（40.5%，n = 109），其次是脑干（26.8%，n = 72）和幕上皮质下（24.2%，n = 65）。病灶平均大小为13.2 mm（标准差7.5）。51.1%的患者存在DVA（n = 135），其中I型CCM-DVA占51.1%，II型占32.6%，III型占16.3%。DVA平均大小为2.3 mm（标准差1.3），III型最大（平均：3.82 mm，标准差1.18）。CCM-DVA类型与病灶多发性显著相关，II型和III型是最强的独立预测因素（分别为p = 0.011和p < 0.001）。脑干CCM病灶在单因素和多因素模型中也具有显著性（p = 0.044）。未发现与可改变的危险因素有显著关联。本研究首次系统评估了散发性CCM中与病灶多发性相关的临床和影像学因素。研究结果确定CCM-DVA类型和脑干CCM位置为关键预测因素，强调需要进一步研究驱动病灶形成和进展的遗传和血管机制。