Department of Cardiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Department of Geriatrics, Chongqing General Hospital, Chongqing, China.
Front Endocrinol (Lausanne). 2023 Jul 28;14:1180091. doi: 10.3389/fendo.2023.1180091. eCollection 2023.
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 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 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.
嗜铬细胞瘤是一种罕见的神经内分泌肿瘤，与遗传性易感性基因高度相关，常作为遗传综合征的一部分发生。嗜铬细胞瘤的遗传异质性给诊断、咨询和临床管理带来了挑战。
我们报告了一例 60 岁女性患者，患有高血压、房间隔缺损和红细胞增多症，出现阵发性心悸、出汗、头痛、腹痛、恶心和呕吐，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 显示圆形腹膜后肿块，软组织密度，生长抑素受体成像（68Ga PET-CT）显示腹膜后肿块生长抑素受体异常表达增加。有趣的是，对血液和肿瘤样本进行全外显子组测序（WES）分析显示了一种新的突变，即 c.2501A > G；p.Tyr834Cys 变体，以前从未报道过。患者被诊断为嗜铬细胞瘤，并成功接受了达芬奇机器人辅助腹腔镜腹膜后肿瘤切除术。在 3 个月的随访期间，她的血压稳定，症状明显改善。
该病例表明， 突变可能是伴房间隔缺损和红细胞增多症的嗜铬细胞瘤的主要驱动因素。此外，达芬奇机器人辅助腹腔镜手术的应用有助于患者的预后良好。
