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Abstract：
Approximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase (SDHx) genes (SDHA, SDHB, SDHC and SDHD), which encode the four subunits of the SDH enzyme. When a pathogenic SDHx mutation is identified in an affected patient, genetic counselling is proposed for first-degree relatives. Optimal initial evaluation and follow-up of people who are asymptomatic but might carry SDHx mutations have not yet been agreed. Thus, we established an international consensus algorithm of clinical, biochemical and imaging screening at diagnosis and during surveillance for both adults and children. An international panel of 29 experts from 12 countries was assembled, and the Delphi method was used to reach a consensus on 41 statements. This Consensus Statement covers a range of topics, including age of first genetic testing, appropriate biochemical and imaging tests for initial tumour screening and follow-up, screening for rare SDHx-related tumours and management of elderly people who have an SDHx mutation. This Consensus Statement focuses on the management of asymptomatic SDHx mutation carriers and provides clinicians with much-needed guidance. The standardization of practice will enable prospective studies in the near future.
摘要：
大约20％的被诊断患有嗜铬细胞瘤或副神经节瘤的患者在琥珀酸脱氢酶（SDHx）基因之一中携带种系突变（SDHA，SDHB,SDHC和SDHD），其编码SDH酶的四个亚基。当在受影响的患者中发现致病性SDHx突变时，建议为一级亲属提供遗传咨询。尚未就无症状但可能携带SDHx突变的人的最佳初始评估和随访达成共识。因此，我们建立了一个国际共识的临床算法，在成人和儿童的诊断和监测期间进行生化和影像学筛查。由来自12个国家的29名专家组成的国际小组举行了会议，并采用德尔菲法就41项声明达成共识。这份共识声明涵盖了一系列主题，包括第一次基因检测的年龄，适当的生化和影像学检查，用于初步肿瘤筛查和随访，筛查罕见的SDHx相关肿瘤和管理有SDHx突变的老年人。本共识声明侧重于无症状SDHx突变携带者的管理，并为临床医生提供急需的指导。实践的标准化将在不久的将来进行前瞻性研究。
