Rechberger Julian S, Toll Stephanie A, Vanbilloen Wouter J F, Daniels David J, Khatua Soumen
Department of Neurologic Surgery, Mayo Clinic, Rochester, MN 55905, USA.
Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN 55905, USA.
Diagnostics (Basel). 2023 Jul 18;13(14):2398. doi: 10.3390/diagnostics13142398.
Medulloblastoma is the most common malignant brain tumor in children. Over the last few decades, significant progress has been made in revealing the key molecular underpinnings of this disease, leading to the identification of distinct molecular subgroups with different clinical outcomes. In this review, we provide an update on the molecular landscape of medulloblastoma and treatment strategies. We discuss the four main molecular subgroups (WNT-activated, SHH-activated, and non-WNT/non-SHH groups 3 and 4), highlighting the key genetic alterations and signaling pathways associated with each entity. Furthermore, we explore the emerging role of epigenetic regulation in medulloblastoma and the mechanism of resistance to therapy. We also delve into the latest developments in targeted therapies and immunotherapies. Continuing collaborative efforts are needed to further unravel the complex molecular mechanisms and profile optimal treatment for this devastating disease.
髓母细胞瘤是儿童最常见的恶性脑肿瘤。在过去几十年中，在揭示这种疾病的关键分子基础方面取得了重大进展，从而确定了具有不同临床结果的不同分子亚组。在本综述中，我们提供了髓母细胞瘤分子格局和治疗策略的最新情况。我们讨论了四个主要分子亚组（WNT激活型、SHH激活型以及非WNT/非SHH的3组和4组），强调了与每个实体相关的关键基因改变和信号通路。此外，我们探讨了表观遗传调控在髓母细胞瘤中的新作用以及对治疗的耐药机制。我们还深入研究了靶向治疗和免疫治疗的最新进展。需要持续的合作努力来进一步阐明这种毁灭性疾病的复杂分子机制并确定最佳治疗方案。
