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髓母细胞瘤成像生物标志物与分子亚型的关联

Association of imaging biomarkers with molecular subtypes of medulloblastoma.

作者信息

Aljaafary Maryam, Alali Akeel A

机构信息

Radiology, Medical Imaging, King Abdulaziz Medical City, Saudi Arabia.

Radiology, King Abdullah International Medical Research Center, Saudi Arabia.

出版信息

Neuroradiol J. 2025 Jun;38(3):304-311. doi: 10.1177/19714009241303065. Epub 2024 Nov 25.

Abstract

The World Health Organization (WHO) subdivided medulloblastoma into genetic and histopathological groups, each with a specific therapeutic intervention and different clinical outcomes. These subtypes may present with distinct imaging features. Therefore, the current study aimed to identify magnetic resonance imaging (MRI) biomarkers to predict the precise pathological characteristics of medulloblastoma. This study included 28 patients with a first diagnosis of medulloblastoma who underwent preoperative brain MRI with subsequent surgical resection and histopathological confirmation at our hospital between 2010 and 2022. Conventional MRI parameters, including apparent diffusion coefficient (ADC) mean values, were correlated with molecular subtypes to identify distinct MRI biomarkers. Out of 28 tumors, two (7.1%) tumors exhibited wingless (WNT) activation, thirteen (46.4%) exhibited sonic hedgehog (SHH) activation, and thirteen (46.4%) exhibited non-WNT/non-SHH activation (Group 3 or 4). Statistical analysis revealed a significant association of SHH-activated tumors with paramidline/cerebellar location and the presence of peritumoral edema ( value = <0.0001). No significant correlations were found between the genetic subtypes and the other MRI parameters. A distinctive distribution of the ADC-mean values among the various genetic subtypes with recognizable tendencies was identified. However, it was statistically insignificant. Conventional MRI features of the paramidline/hemispheric location and the presence of peritumoral edema were significantly correlated with the SHH activated pathway and hence can be used to facilitate the preoperative implementation of SHH-targeted therapeutic intervention. Although the ADC-mean measurements were not statistically significant, a recognizable distribution of values among the various genetic subtypes was identified.

摘要

世界卫生组织(WHO)将髓母细胞瘤细分为基因和组织病理学组,每组都有特定的治疗干预措施和不同的临床结果。这些亚型可能具有不同的影像学特征。因此,本研究旨在识别磁共振成像(MRI)生物标志物,以预测髓母细胞瘤的确切病理特征。本研究纳入了28例初诊为髓母细胞瘤的患者,他们于2010年至2022年期间在我院接受了术前脑部MRI检查,随后进行了手术切除和组织病理学确诊。包括表观扩散系数(ADC)平均值在内的传统MRI参数与分子亚型相关,以识别不同的MRI生物标志物。在28个肿瘤中,2个(7.1%)肿瘤表现为无翅(WNT)激活,13个(46.4%)表现为音猬因子(SHH)激活,13个(46.4%)表现为非WNT/非SHH激活(3组或4组)。统计分析显示,SHH激活的肿瘤与中线旁/小脑位置和瘤周水肿的存在显著相关( 值 = <0.0001)。基因亚型与其他MRI参数之间未发现显著相关性。在各种基因亚型中确定了具有可识别趋势的ADC平均值的独特分布。然而,在统计学上无显著意义。中线旁/半球位置的传统MRI特征和瘤周水肿的存在与SHH激活途径显著相关,因此可用于促进术前实施SHH靶向治疗干预。尽管ADC平均值测量在统计学上无显著意义,但在各种基因亚型中确定了可识别的值分布。

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