Navigating the complexity of atypical teratoid/rhabdoid tumor (ATRT) in pediatric neuro-oncology: Insights from clinical spectrum to therapeutic challenges

儿童神经肿瘤学中非典型畸胎瘤/横纹肌样瘤 (ATRT) 的复杂性:从临床表现到治疗挑战的启示

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Abstract

INTRODUCTION AND IMPORTANCE: Atypical teratoid/rhabdoid tumor (ATRT) is a rare and aggressive pediatric central nervous system malignancy, accounting for only 1-2 % of cases. Primarily affecting children under three years old, ATRT poses significant diagnostic and therapeutic challenges, with high recurrence rates and poor prognosis due to its rapid progression and lack of a standardized treatment protocol. CASE PRESENTATION: We report the case of a 2-year-old male diagnosed with infratentorial ATRT after presenting with abnormal gait, vomiting, and ataxia following minor head trauma. Magnetic resonance imaging (MRI) revealed a mixed solid-cystic cerebellar lesion, prompting surgical resection. Despite postoperative chemotherapy, tumor progression was noted, leading to a second craniotomy, which achieved complete resection. Serial follow-up MRI until February 2025 showed no evidence of recurrence, and the patient remains symptom-free four years post-treatment. CONCLUSION: This case underscores the complexities of ATRT management, emphasizing the importance of early diagnosis, aggressive multimodal therapy, and vigilant radiological follow-up. While ATRT shares imaging similarities with medulloblastomas, its distinct histopathological features necessitate tailored treatment strategies. Maximal safe resection, followed by intensive chemotherapy, remains the cornerstone of treatment, highlighting the need for a multidisciplinary approach to improve long-term outcomes in pediatric ATRT patients.

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