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高级 MRI 发现髓母细胞瘤:与遗传亚型、组织病理学和免疫组织化学的关系。

Advanced MRI Findings in Medulloblastomas: Relationship to Genetic Subtypes, Histopathology, and Immunohistochemistry.

机构信息

Institute of Neuroradiology, University Hospital, LMU Munich, Munich, Germany.

Department of Neuropathology, University Hospital, LMU Munich, Munich, Germany.

出版信息

J Neuroimaging. 2021 Mar;31(2):306-316. doi: 10.1111/jon.12831. Epub 2021 Jan 19.

Abstract

BACKGROUND AND PURPOSE

For diagnosis of medulloblastoma, the updated World Health Organization classification now demands for genetic typing, defining more precisely the tumor biology, therapy, and prognosis. We investigated potential associations between magnetic resonance imaging (MRI) parameters including apparent diffusion coefficient (ADC) and neuropathologic features of medulloblastoma, focusing on genetic subtypes.

METHODS

This study was a retrospective single-center analysis of 32 patients (eight females, median age = 9 years [range, 1-57], mean 12.6 ± 11.3) from 2012 to 2019. Genetic subtypes (wingless [WNT]; sonic hedgehog [SHH]; non-WNT/non-SHH), histopathology, immunohistochemistry (p53, Ki67), and the following MRI parameters were correlated: tumor volume, location (midline, pontocerebellar, and cerebellar hemisphere), edema, hydrocephalus, metastatic disease (presence/absence and each), contrast-enhancement (minor, moderate, and distinct), cysts (none, small, and large), hemorrhage (none, minor, and major), and ADC . The ADC was calculated using manually set regions of interest within the solid tumor. Statistics comprised univariate and multivariate testing.

RESULTS

Out of 32 tumors, three tumors were WNT activated (9.4%), 13 (40.6%) SHH activated, and 16 (50.0%) non-WNT/non-SHH. Hemispherical location (n = 7/8, P = .003) and presence of edema (8/8; P < .001, specificity 100%, positive predictive value 100%) were significantly associated with SHH activation. The combined parameter "no edema + no metastatic disease + cysts" significantly discriminated WNT-activated from SHH-activated medulloblastoma (P = .036). ADC (10 mm /s) was 484 for WNT-activated, 566 for SHH-activated, and 624 for non-WNT/non-SHH subtypes (P = .080). A significant negative correlation was found between ADC and Ki67 (r = -.364, P = .040).

CONCLUSION

MRI analysis enabled noninvasive differentiation of SHH-activated medulloblastoma. ADC alone was not reliable for genetic characterization, but associated with tumor proliferation rate.

摘要

背景与目的

为了对髓母细胞瘤进行诊断,世界卫生组织的最新分类要求进行基因分型,从而更精确地定义肿瘤生物学、治疗和预后。我们研究了磁共振成像(MRI)参数(包括表观扩散系数 ADC)与髓母细胞瘤神经病理学特征之间的潜在关联,重点关注遗传亚型。

方法

这是一项回顾性单中心研究,纳入了 2012 年至 2019 年的 32 名患者(8 名女性,中位年龄=9 岁[范围,1-57],平均 12.6±11.3)。我们将肿瘤的遗传亚型(无翼型[WNT];小脑幕型[SHH];非 WNT/非 SHH)、组织病理学、免疫组化(p53、Ki67)与以下 MRI 参数相关联:肿瘤体积、位置(中线、桥脑小脑、小脑半球)、水肿、脑积水、转移病灶(有无及每例的转移灶数量)、增强程度(轻度、中度、显著)、囊肿(无、小、大)、出血(无、小、大)和 ADC。ADC 使用肿瘤实体部分的手动设定感兴趣区进行计算。统计学分析包括单变量和多变量检验。

结果

32 个肿瘤中,3 个为 WNT 激活(9.4%),13 个为 SHH 激活(40.6%),16 个为非 WNT/非 SHH 激活(50.0%)。小脑半球位置(7/8,P=.003)和水肿存在(8/8;P<.001,特异性 100%,阳性预测值 100%)与 SHH 激活显著相关。“无水肿+无转移病灶+囊肿”的联合参数可显著区分 WNT 激活与 SHH 激活的髓母细胞瘤(P=.036)。WNT 激活的 ADC(10mm/s)为 484,SHH 激活的为 566,非 WNT/非 SHH 激活的为 624(P=.080)。我们发现 ADC 与 Ki67 呈显著负相关(r=-.364,P=.040)。

结论

MRI 分析可实现 SHH 激活的髓母细胞瘤的无创性鉴别。ADC 本身不可靠用于基因特征分析,但与肿瘤增殖率相关。

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