Kong Wenzhi, Qu Qingxi, Zhang Shiqian
Department of Obstetrics and Gynaecology, Qilu Hospital of Shandong University, Jinan, China.
Front Oncol. 2022 Aug 26;12:961666. doi: 10.3389/fonc.2022.961666. eCollection 2022.
Vulva paragangliomas are rare and usually misdiagnosed or missed, especially in juveniles. Our aim was to summarize the clinical characteristics and treatments of vulva paragangliomas.
We present a case of a 17-year-old Chinese patient with functional paraganglioma from the vulva that was misdiagnosed as clear cell carcinoma. She had suffered from severe headaches, palpitations, sweating, pallor and hypertension. The vaginal wall was invaded by this mass. The tumour was surgically removed smoothly. However, the disease recurred 7 years after surgery, and the patient was treated again. Personalized genetic testing was performed while recovering, and the results suggested that the patient had a germline mutation in the Succinate Dehydrogenase subunit B (SDHB) gene. Now, the patient has been discharged successfully, her blood pressure has returned to normal and some of her clinical symptoms disappeared. A review of the literature concerning the topic is also presented, there have been only 2 cases of paraganglioma of the vulva and 11 cases of vaginal paraganglioma since 1955.
Our case describes a recurrent vulvovaginal paraganglioma with SDHB gene mutation and the largest tumor diameter to date. The diagnosis and treatment process of this case can provide reference for the management of other similar patients.
外阴副神经节瘤罕见，常被误诊或漏诊，尤其是在青少年中。我们的目的是总结外阴副神经节瘤的临床特征及治疗方法。
我们报告一例17岁中国患者，患有来自外阴的功能性副神经节瘤，最初被误诊为透明细胞癌。她曾出现严重头痛、心悸、出汗、面色苍白及高血压症状。肿瘤侵犯阴道壁。肿瘤被顺利手术切除。然而，术后7年疾病复发，患者再次接受治疗。恢复过程中进行了个性化基因检测，结果显示患者琥珀酸脱氢酶亚基B（SDHB）基因存在种系突变。目前，患者已成功出院，血压恢复正常，部分临床症状消失。本文还对相关文献进行了综述，自1955年以来，仅有2例外阴副神经节瘤及11例阴道副神经节瘤的报道。
我们的病例描述了一例伴有SDHB基因突变且肿瘤直径为迄今最大的复发性外阴阴道副神经节瘤。该病例的诊治过程可为其他类似患者的管理提供参考。
