Department of Surgical Oncology, Division of Surgical Endocrinology, The University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Unit 1484, Houston, TX 77030, USA.
Clinical Cancer Genetics Program, Division of Surgical Endocrinology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Surg Oncol Clin N Am. 2023 Apr;32(2):289-301. doi: 10.1016/j.soc.2022.10.006.
It is recognized that a large portion of pheochromocytoma and paraganglioma cases will have an underlying germline mutation, supporting the recommendation for universal genetic testing in all patients with PPGLs. A mutation in succinate dehydrogenase subunit B is associated with increased rates of developing synchronous and/or metachronous metastatic disease. Patients identified with this mutation require meticulous preoperative evaluation, a personalized surgical plan to minimize the risk of recurrence and tumor spread, and lifelong surveillance.
人们认识到，很大一部分嗜铬细胞瘤和副神经节瘤病例将存在潜在的种系突变，这支持了对所有 PPGL 患者进行普遍遗传检测的建议。琥珀酸脱氢酶亚基 B 的突变与同步和/或异时转移性疾病发生率的增加有关。发现这种突变的患者需要进行细致的术前评估、个性化的手术计划以最大程度降低复发和肿瘤扩散的风险，以及终身监测。
