44例少突胶质细胞瘤的临床病理观察

目的探讨少突胶质细胞瘤异柠檬酸脱氢酶(IDH)突变伴1p/19q共缺失型的病理形态、免疫表型、分子遗传学特点、临床表现及预后。方法回顾性分析2018年1月—2022年12月徐州医科大学附属医院收治的44例少突胶质细胞瘤患者的临床资料，结合其组织形态、免疫表型及分子检测结果综合判读，参照2021年世界卫生组织（WHO）中枢神经系统肿瘤分类标准进行诊断分级，复习国内外相关文献，分析其临床及病理特征。结果44例患者诊断均为少突胶质细胞瘤，WHO Ⅱ级18例（41%），平均年龄为43.4岁，WHO Ⅲ级26例（59%），平均年龄为51.3岁。肿瘤多位于大脑额叶，呈灰红色，质软，镜下见不同细胞密度肿瘤细胞向脑实质浸润性生长。44例免疫组化均示IDH1-R132H阳性，表达ATRX，GFAP, Olig-2等，荧光原位杂交均示1p/19q共缺失。结论少突胶质细胞瘤是一种少见的弥漫浸润性胶质瘤，治疗反应相对较差，预后较差，形态学需与星形细胞瘤、胶质母细胞瘤、中枢神经细胞瘤、室管膜瘤等鉴别，容易误诊，诊断时需结合组织形态、免疫组化和基因检测结果综合分析。

Objective To investigate the pathological morphology, immunophenotype, clinical manifestation and prognosis of oligodendroglioma with isocitrate dehydrogenase(IDH) mutation and 1p/19q co-deletion. Methods The clinical data of 44 patients with oligodendroglioma admitted to the Affiliated Hospital of Xuzhou Medical University from January 2018 to December 2022 were analyzed retrospectively. Combined with the comprehensive interpretation of their histomorphology, immunophenotype and molecular detection results, the diagnosis and classification were carried out according to the 2021 World Health Organization(WHO) classification criteria for central nervous system tumors. And the relevant literature was reviewed to analyze their clinical and pathological characteristics. Results All 44 patients were diagnosed as oligodendroglioma. There were 18 patients with WHO grade Ⅱ, with an average age of 43.4 years, and 26 patients with WHO grade Ⅲ, with an average age of 51.3 years. Most of the tumors were located in the frontal lobe of the brain. They were grayish red and soft. Microscopically, tumor cells with different cell densities could be seen infiltrating and growing towards the brain parenchyma. 44 cases showed IDH1-R132H positive by immunohistochemistry and expressed ATRX, GFAP, Olig-2, et al. And fluorescence in situ hybridization showed 1p/19q co-deletion. Conclusions Oligodendroglioma is a rare diffuse infiltrating glioma with relatively poor treatment response and poor prognosis. In morphology, it should be differentiated from central neurocytoma, astrocytoma, glioblastoma, neuroectodermal tumor, lymphoma, etc. It is easy to be misdiagnosed. The diagnosis should be improved and combined with histopathology and fish gene detection results.