基于基因诊断的鞍旁高分化软骨肉瘤一例并文献复习

Highly Differentiated Chondrosarcoma in the Parasellar Region Based on Genetic Diagnosis: A Case Report and Literature Review

摘要: 目的：报道鞍旁软骨肉瘤的临床特点，探讨本病的特征性影像学表现及基因检测在其临床诊治中的价值。方法：回顾1例鞍旁高分化软骨肉瘤患者的临床资料并复习相关文献。结果：本例报道的鞍旁高分化软骨肉瘤患者以头痛为主要表现，MRI检查示右侧蝶鞍部团块状异常信号，神经导航下手术分块全切肿瘤，术后行病理组织免疫组化及基因检测。患者术后恢复良好，随访6个月无复发。结论：对于病理特征不明显的软骨肉瘤，标本的基因检测非常重要，往往可以发现明确的基因突变或融合。诊疗过程中需加强对其的认识，及时给予治疗。

Abstract: Objective: To report the clinical characteristics of parasellar chondrosarcoma and explore the characteristic imaging manifestations and genetic testing value in its clinical diagnosis and treatment. Method: Review the clinical data of a patient with highly differentiated chondrosarcoma of the parasellar region and review relevant literature. Result: The patient with highly differentiated chondrosarcoma of the sella turcica reported in this case presented with headache as the main manifestation. MRI examination showed abnormal signals in the right sella turcica, and the tumor was surgically excised in blocks under neuronavigation. Pathological tissue immunohistochemistry and genetic testing were performed postoperatively. The patient recovered well after surgery and was followed up for 6 months without recurrence. Conclusion: For chondrosarcoma with unclear pathological features, genetic testing of the specimen is very important, often revealing clear gene mutations or fusion. During the diagnosis and treatment process, it is necessary to strengthen the understanding of it and provide timely treatment.