The Advances and Challenges in the Diagnosis of Pediatric Intracranial Germ Cell Tumors

颅内生殖细胞肿瘤(intracranial germ cell tumors, ICGCTs)是一种异质性强、病理分型复杂的儿童常见颅内肿瘤。因其存在病理取样的局限性和放化疗敏感的特点，实践中无需手术活检的临床诊断应用远比病理诊断更为广泛。随着精准医疗的发展和MDT (多学科诊疗)的出现，ICGCTs目前的诊断方案已经能够解决大多数临床问题，但仍然存在部分不可忽视的困境。部分患者病情隐匿、潜伏期长，影像学表现不典型，容易出现延迟诊断、误诊和漏诊，留下不可逆的神经功能后遗症，而目前值得期待的新兴技术投入临床使用也需要更多高质量研究来验证。未来需要对ICGCTs患儿的诊疗模式进行优化和整合，获取更精确、敏感的诊断方法，早期精准治疗，改善患者的生存质量。Intracranial germ cell tumors (ICGCTs) are a common type of pediatric intracranial tumor characterized by significant heterogeneity and complex pathological classifications. Due to the limitations in pathological sampling and their sensitivity to radiotherapy and chemotherapy, clinical diagnosis without surgical biopsy is far more prevalent in practice than pathological diagnosis for patients. With the advancement of precision medicine and the emergence of MDT (multidisciplinary team), current diagnostic approaches for ICGCTs are capable of addressing most clinical issues. However, there are still some challenges which can not be neglected. Some patients exhibit insidious symptoms and long latency periods, with atypical imaging manifestations, leading to delayed diagnosis, misdiagnosis, and missed diagnosis, which can result in irreversible neurological sequelae. Moreover, the promising emerging technologies awaiting clinical application require further high-quality research for validation. In the future, it is essential to optimize and integrate the diagnostic and treatment models for children with ICGCTs, to develop more accurate and sensitive diagnostic methods, and to provide early and precise treatment to improve the quality of life for these patients.