Department of Pediatrics, Memorial Sloan Kettering Cancer Center, 1275 York Ave., New York, NY, 10065, USA.
Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA.
Curr Oncol Rep. 2020 Jul 9;22(9):90. doi: 10.1007/s11912-020-00953-4.
Molecular subtyping in medulloblastoma (MB) has diagnostic and prognostic values which impact therapy. This paper provides guidance for the clinician caring for pediatric and adult patients with medulloblastoma in the modern era.
Medulloblastoma comprises four molecularly distinct subgroups: wingless activated (WNT), sonic hedgehog activated (SHH), group 3, and group 4. Risk stratification before and after the discovery of molecular subgroups aims at minimizing toxicity by reducing radiation and chemotherapy doses in low-risk patients while maintaining favorable overall survival (OS). The mainstay of newly diagnosed medulloblastoma treatment is surgery, radiation therapy, and chemotherapy, except for children under 6 years of age, where high-dose chemotherapy with autologous stem cell rescue is used to avoid or delay radiotherapy, preventing neurocognitive sequelae. Management of recurrent/refractory medulloblastoma remains a challenge with immunotherapy and small-molecule inhibitors forming the backbone of novel strategies. Recent innovations in medulloblastoma research allow us to better understand pathogenesis and molecular characteristics resulting in advanced risk stratification models, new therapeutic approaches, and overall improved survival and quality of life.
髓母细胞瘤（MB）的分子亚型具有诊断和预后价值，影响治疗方法。本文为儿科和成人 MB 患者的临床医生提供了现代治疗指导。
髓母细胞瘤包括四个分子上明显不同的亚组：无翅型（WNT）、刺猬信号通路（SHH）、group 3 和 group 4。在发现分子亚群之前和之后进行危险分层的目的是通过减少低危患者的放疗和化疗剂量，同时保持良好的总生存率（OS），来降低毒性。新诊断的髓母细胞瘤治疗的主要方法是手术、放疗和化疗，但 6 岁以下的儿童除外，他们使用大剂量化疗和自体干细胞挽救来避免或延迟放疗，以防止神经认知后遗症。复发性/难治性髓母细胞瘤的管理仍然是一个挑战，免疫疗法和小分子抑制剂是新策略的基础。髓母细胞瘤研究的最新进展使我们能够更好地了解发病机制和分子特征，从而建立先进的危险分层模型、新的治疗方法以及整体改善生存率和生活质量。
