副神经节瘤是一种罕见的神经内分泌肿瘤，与遗传易感基因密切相关，通常作为遗传综合征的一部分出现。副神经节瘤的遗传异质性在诊断、咨询和临床管理方面带来了挑战。本文介绍了一位60岁女性患者的病例，患有高血压、房间隔缺损和多血症，出现阵发性心悸、出汗、头痛、腹痛、恶心和呕吐。她的血压严重不稳定。血液实验室检查显示儿茶酚胺水平升高，全腹部增强CT显示圆形腹腔后肿块，组织密度正常，生长抑素受体显像（68Ga PET-CT）显示腹腔后肿块生长抑素受体表达异常增高。值得注意的是，对血液和肿瘤样本进行的全外显子测序（WES）分析显示了一种新的EPAS1突变，具体为c.2501A > G；p.Tyr834Cys变异，尚未报告过。患者被诊断为副神经节瘤，并接受了成功的达芬奇机器人辅助腹腔镜切除腹腔后肿瘤手术。在3个月的随访期内，她的血压稳定，症状明显改善。本病例显示EPAS1突变可能是合并房间隔缺损和多血症的副神经节瘤的主要驱动因素。此外，达芬奇机器人辅助腹腔镜手术的应用有助于患者良好的预后。 版权所有 © 2023 杨、陈、刘和赵。

Paraganglioma is a rare neuroendocrine tumor and is highly associated with hereditary susceptibility genes, often occurring as part of a genetic syndrome. The genetic heterogeneity of paraganglioma poses challenges in diagnosis, counseling, and clinical management.We present the case of a 60-year-old woman with hypertension, atrial septal defect, and polycythemia, who experienced paroxysmal palpitations, sweating, headache, abdominal pain, nausea, and vomiting. Her blood pressure was severely unstable. Blood laboratory tests revealed elevated catecholamine levels, contrast-enhanced CT of her whole abdomen showed a round retroperitoneal mass with soft tissue density, and somatostatin receptor imaging (68Ga PET-CT) indicated a retroperitoneal mass with abnormally increased expression of somatostatin receptor. It is interesting to note that whole exome sequencing (WES) analyses on both blood and tumor samples revealed a novel EPAS1 mutation, specifically the c.2501A > G; p.Tyr834Cys variant, which has never been reported. The patient was diagnosed with paraganglioma and underwent successful Da Vinci robot-assisted laparoscopic resection of the retroperitoneal tumor. During a 3-month follow-up period, her blood pressure stabilized, and her symptoms significantly improved.This case reveals that the EPSA1 mutation may be the primary driver of paraganglioma complicated by atrial septal defect and polycythemia. Additionally, the utilization of Da Vinci robot-assisted laparoscopic surgery contributed to a favorable prognosis for the patient.Copyright © 2023 Yang, Chen, Liu and Zhao.