Colafati Giovanna Stefania, Voicu Ioan Paul, Carducci Chiara, Miele Evelina, Carai Andrea, Di Loreto Simona, Marrazzo Antonio, Cacchione Antonella, Cecinati Valerio, Tornesello Assunta, Mastronuzzi Angela
Department of Imaging, Neuroradiology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
Department of Imaging, Neuroradiology Unit and Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, Rome, Italy.
Ther Adv Neurol Disord. 2018 Jun 18;11:1756286418775375. doi: 10.1177/1756286418775375. eCollection 2018.
Medulloblastoma is the most common malignant pediatric brain tumor. Medulloblastoma should not be viewed as a single disease, but as a heterogeneous mixture of various subgroups with distinct characteristics. Based on genomic profiles, four distinct molecular subgroups are identified: Wingless (WNT), Sonic Hedgehog (SHH), Group 3 and Group 4. Each of these subgroups are associated with specific genetic aberrations, typical age of onset as well as survival prognosis. Magnetic resonance imaging (MRI) is performed for all patients with brain tumors, and has a key role in the diagnosis, surgical guidance and follow up of patients with medulloblastoma. Several studies indicate MRI as a promising tool for early detection of medulloblastoma subgroups. The early identification of the subgroup can influence the extent of surgical resection, radiotherapy and chemotherapy targeted treatments. In this article, we review the state of the art in MRI-facilitated medulloblastoma subgrouping, with a summary of the main MRI features in medulloblastoma and a brief discussion on molecular characterization of medulloblastoma subgroups. The main focus of the article is MRI features that correlate with medulloblastoma subtypes, as well as features suggestive of molecular subgroups. Finally, we briefly discuss the latest trends in MRI studies and latest developments in molecular characterization.
髓母细胞瘤是最常见的儿童恶性脑肿瘤。不应将髓母细胞瘤视为单一疾病,而应看作是具有不同特征的各种亚组的异质性混合物。基于基因组图谱,可识别出四个不同的分子亚组:翼状胬肉(WNT)、音猬因子(SHH)、3组和4组。这些亚组中的每一个都与特定的基因畸变、典型发病年龄以及生存预后相关。所有脑肿瘤患者均需进行磁共振成像(MRI)检查,MRI在髓母细胞瘤患者的诊断、手术指导和随访中起着关键作用。多项研究表明,MRI是早期检测髓母细胞瘤亚组的一种有前景的工具。亚组的早期识别可影响手术切除范围、放疗和化疗靶向治疗。在本文中,我们综述了MRI辅助髓母细胞瘤亚组分类的最新进展,总结了髓母细胞瘤的主要MRI特征,并简要讨论了髓母细胞瘤亚组的分子特征。本文的主要重点是与髓母细胞瘤亚型相关的MRI特征,以及提示分子亚组的特征。最后,我们简要讨论了MRI研究的最新趋势和分子特征的最新进展。