在资源有限环境中攻克婴幼儿髓母细胞瘤：挑战、机遇与治疗结局

文献信息

中文摘要

背景： 婴幼儿髓母细胞瘤因高复发率以及颅脊放疗（CSI）相关的严重神经发育风险而带来重大治疗挑战。来自中低收入国家（LMICs）的结局数据仍然稀缺。
方法： 对2010年至2023年间在约旦侯赛因国王癌症中心诊断为髓母细胞瘤的儿童（年龄<5岁）进行了回顾性病历审查。
结果： 共识别出27例患者。中位年龄为2岁（范围0.5-4.3岁），78%为男性，超过一半（52%）在就诊时已有转移性疾病。12例患者（44%）残留肿瘤≤1.5 cm2。17例患者（63%）需要脑室腹腔分流术。7例（26%）出现术后并发症。10个肿瘤为经典型组织学，8个为促纤维增生型，6个为间变型，3个为MBEN。16个肿瘤（59%）进行了分子亚组分类：SHH（14例）、第3组（2例）。患者接受了多种治疗方案：HeadStart 1&2类似方案（17例）、SKK-92（8例）和BBSFOP（2例）。尽管21例患者计划接受自体干细胞移植（ASCT），但仅13例接受了移植（3例因经济限制接受了SKK-92，2例提前停止治疗，2例出现早期肿瘤进展，1例因化疗毒性转为BBSFOP方案）。在中位随访7.4年（范围2.5-16年）时，17例患者（63%）存活。12例患者（44%）在未接受放疗的情况下处于CR1存活（其中5例也避免了ASCT），3例在CSI-36 Gy后处于CR2，1例在ASCT后接受CSI-23.4 Gy处于CR3，1例在挽救性CSI-36 Gy后失访。2例患者发生第二肿瘤：1例死于高级别胶质瘤，1例发生甲状腺癌。2例存活者需要白内障手术，4例有听力损失。10例存活者需要激素补充。
结论： 即使在LMICs，一些婴幼儿髓母细胞瘤患者也可以在不接受ACST或放疗的情况下获得持久治愈。虽然这些治疗仍是关键的挽救选择，但终身综合支持对于优化生存和生活质量至关重要。

英文摘要

BACKGROUND: Infant and young children medulloblastoma poses significant treatment challenges due to high recurrence rates and the severe neurodevelopmental risks associated with craniospinal irradiation (CSI). Outcome data from low-middle-income countries (LMICs) remain scarce.
METHODS: A retrospective chart review was conducted for children (age <5 years) diagnosed with medulloblastoma at King Hussein Cancer Center, Jordan, between 2010 and 2023.
RESULTS: Twenty-seven patients were identified. The median age was 2 years (range, 0.5-4.3 years) with 78% males, and over half (52%) presented with metastatic disease. Twelve patients (44%) had ≤ 1.5 cm2 residual tumor. Seventeen patients (63%) required ventriculoperitoneal shunt placement. Seven (26%) developed postoperative complications. Ten tumors were of classic histology, eight desmoplastic, six anaplastic, and three MBEN. Sixteen tumors (59%) were molecularly subgrouped: SHH (fourteen), Group-3 (two). Patients received various treatment protocols: HeadStart 1&2-like protocols (seventeen), SKK-92 (eight), and BBSFOP (two). Although 21 patients were planned for autologous stem cell transplantation (ASCT), only 13 received it (three received SKK-92 due to financial constraints, two prematurely stopped therapy, two developed early tumor progression, and one shifted to BBSFOP protocol due to chemotherapy toxicity). At a median follow-up of 7.4 years (range, 2.5-16 years), 17 patients (63%) are alive. Twelve patients (44%) are alive in CR1 without radiotherapy (five of whom also avoided ASCT), three in CR2 after CSI-36 Gy, one in CR3 after ASCT then CSI-23.4 Gy, and one patient lost to follow-up after salvage CSI-36 Gy. Two patients developed secondary tumors: one died from high-grade glioma and one developed thyroid carcinoma. Two survivors needed cataract surgery, and four had hearing loss. Ten survivors need hormonal supplements.
CONCLUSIONS: Some infants and young children with medulloblastoma can achieve durable cure without ACST or radiotherapy, even in LMICs. While these therapies remain critical salvage options, lifelong comprehensive support is imperative to optimize survival and quality of life.