Harry Jason L, Shezi Nomusa B, Mwazha Absalom
Department of Anatomical Pathology, National Health Laboratory Service, Durban, South Africa; Discipline of Anatomical Pathology, University of KwaZulu-Natal, Durban, South Africa.
Department of Neurosurgery, Inkosi Albert Luthuli Central Hospital, Durban, South Africa; Discipline of Neurosurgery, University of KwaZulu-Natal, Durban, South Africa.
Ann Diagn Pathol. 2025 Jun;76:152463. doi: 10.1016/j.anndiagpath.2025.152463. Epub 2025 Mar 5.
Medulloblastoma (MB) is the second most common malignant paediatric central nervous system (CNS) tumour. The World Health Organisation (WHO) advocates an integrated pathological and molecular approach to diagnosis. Immunohistochemistry (IHC) has been proven to be a valid surrogate for molecular subtyping in low resource settings. This study aimed to use IHC to classify MB into different molecular subtypes. Patients diagnosed with medulloblastoma between 2011 and 2021 were included in the study. Clinicopathological characteristics, treatment patterns and outcomes were reviewed. Molecular subgrouping into wingless signalling activated (WNT), sonic hedgehog (SHH), and non-WNT/non-SHH was performed by immunohistochemical staining, using β-catenin, Yes-associated protein 1 (YAP1) and GRB2-Associated Binding Protein 1 (GAB1) antibodies. Of the 32 children evaluated, the mean age at diagnosis was 9.9 years with M: F ratio of 1.5:1. Classic (75.8 %) and desmoplastic/nodular (24.2 %) were the only two histopathological variants reported. Non-WNT/non-SHH constituted the majority of cases (54.5 %), followed by SHH (36.4 %) and WNT subgroups (9.1 %). The 5-year overall survival and 5-year progression-free survival was 41 % and 38 % respectively. The 30-day operative mortality rate was 28.1 %. Molecular subgroups determined by immunohistochemistry, can be easily incorporated into routine practice in low resource settings. The overall survival rate in our cohort is lower than thate reported in the literature due to high post-operative mortality and low uptake of adjuvant oncotherapy.
髓母细胞瘤（MB）是第二常见的儿童恶性中枢神经系统（CNS）肿瘤。世界卫生组织（WHO）提倡采用综合病理和分子方法进行诊断。在资源有限的环境中，免疫组织化学（IHC）已被证明是分子亚型分类的有效替代方法。本研究旨在使用IHC将MB分为不同的分子亚型。研究纳入了2011年至2021年间诊断为髓母细胞瘤的患者。回顾了临床病理特征、治疗模式和结局。使用β-连环蛋白、Yes相关蛋白1（YAP1）和GRB2相关结合蛋白1（GAB1）抗体，通过免疫组织化学染色将分子亚组分为无翅信号激活（WNT）、音猬因子（SHH）和非WNT/非SHH。在评估的32名儿童中，诊断时的平均年龄为9.9岁，男女比例为1.5:1。报告的仅有的两种组织病理学变体为经典型（75.8%）和促结缔组织增生性/结节型（24.2%）。非WNT/非SHH占大多数病例（54.5%），其次是SHH（36.4%）和WNT亚组（9.1%）。5年总生存率和5年无进展生存率分别为41%和38%。30天手术死亡率为28.1%。通过免疫组织化学确定的分子亚组可以很容易地纳入资源有限环境中的常规实践。由于术后死亡率高和辅助肿瘤治疗的接受率低，我们队列中的总生存率低于文献报道的生存率。
