Abstract:

Background: Glioma is the most common malignant tumor of the central nervous system, and intraoperative accurate diagnosis is critical for formulating rational surgical strategies. Traditional intraoperative frozen section pathology has certain limitations, while molecular diagnosis provides a new direction for precise glioma diagnosis and treatment. This study aimed to explore the clinical value of intraoperative frozen section pathology alone and combined with molecular diagnosis to improve diagnostic accuracy and optimize surgical strategies for gliomas. Methods: A total of 230 patients preoperatively diagnosed with glioma via MRI at Qilu Hospital of Shandong University from January 2021 to December 2023 were enrolled. All patients underwent intraoperative frozen section pathology (traditional diagnosis group, n = 113), while a subset also underwent molecular diagnosis (molecular diagnosis group, n = 117). Using postoperative histopathological diagnosis as the "gold standard", we evaluated the accuracy of intraoperative frozen section pathology alone and combined with molecular diagnosis, as well as the impact of molecular diagnostic techniques on surgical strategies. Results: The accuracy of intraoperative frozen section pathology was 77.88% (88/113). When combined with molecular diagnosis, the accuracy of intraoperative integrated diagnosis improved to 94.87% (111/117). Among the molecular diagnosis group, 20 cases showed discrepancies between intraoperative frozen section pathology and postoperative histopathological diagnosis. Molecular diagnosis corrected 14 of these errors, resulting in only 6 cases with unresolved discrepancies, achieving a correction rate of 70% (14/20). Additionally, 86.32% (101/117) of patients had their surgical strategies optimized based on positive molecular markers, including extended tumor resection (58 cases, 57.43%) and molecular total resection (43 cases, 42.57%). Conclusions: The combination of intraoperative frozen section pathology with molecular diagnosis significantly improve the accuracy of intraoperative diagnosis, optimize surgical strategies, and provide critical support for personalized treatment and precision medicine. This study also validates the clinical value of molecular diagnostic techniques in intraoperative diagnosis of glioma, laying a foundation for future advancements in diagnostic and therapeutic paradigms.

Key words: Glioma, Neurosurgical procedures, Cryoultramicrotomy, Molecular diagnostic techniques, Pathology

摘要：

研究背景: 脑胶质瘤是最常见的中枢神经系统恶性肿瘤，术中精准诊断是制定合理手术策略的关键。传统术中快速冰冻病理诊断存在一定局限性，分子诊断则为胶质瘤精准诊断与治疗提供新的方向。本研究旨在探讨术中快速冰冻病理诊断联合分子诊断对提高胶质瘤诊断准确性及优化手术策略的临床价值。方法: 纳入2021年1月至2023年12月在山东大学齐鲁医院经术前MRI诊断为胶质瘤的230例患者，术中均行快速冰冻病理诊断(传统诊断组，113例)，部分同时行分子诊断(分子诊断组，117例)，以术后病理诊断为“金标准”，评估术中快速冰冻病理诊断及其联合分子诊断的准确性，以及分子诊断技术对手术策略的影响。结果: 术中快速冰冻病理诊断准确率为77.88%(88/113)，在此基础上联合分子诊断的术中整合诊断准确率提高至94.87%(111/117)。其中，分子诊断组有20例术中快速冰冻病理诊断与术后病理诊断不符，经分子诊断修正14例错误诊断，最终仅6例术中整合诊断与术后病理诊断不符，诊断修正率达70%(14/20)；有86.32%(101/117)患者因分子标志物阳性而优化手术策略，包括扩大肿瘤切除范围(58例，57.43%)和予以分子全切(43例，42.57%)。结论: 术中快速冰冻病理诊断联合分子诊断可以显著提高术中诊断的准确性，优化手术策略，为个性化治疗和精准医学提供重要支持。分子诊断技术在胶质瘤术中诊断中具有良好的临床价值，为未来诊断与治疗模式的改进奠定基础。

关键词: 神经胶质瘤, 神经外科手术, 冷冻超薄切片术, 分子诊断技术, 病理学