Petri B-J, van Eijck C H J, de Herder W W, Wagner A, de Krijger R R
Department of Pathology, Erasmus MC-University Medical Centre, Rotterdam, The Netherlands.
Br J Surg. 2009 Dec;96(12):1381-92. doi: 10.1002/bjs.6821.
About 24 per cent of phaeochromocytomas (PCCs) and sympathetic paragangliomas (sPGLs) appear in familial cancer syndromes, including multiple endocrine neoplasia type 2, von Hippel-Lindau disease, neurofibromatosis type 1 and PCC-paraganglioma syndrome. Identification of these syndromes is of prime importance for patients and their relatives. Surgical resection is the treatment of choice for both PCC and sPGL, but controversy exists about the management of patients with bilateral or multiple tumours.
Relevant medical literature from PubMed, Ovid and Embase websites until 2009 was reviewed for articles on PCC, sPGL, hereditary syndromes and their treatment.
Genetic testing for these syndromes should become routine clinical practice for those with PCC or sPGL. Patients should be referred to a clinical geneticist. Patients and family members with proven mutations should be entered into a standardized screening protocol. The preferred treatment of PCC and PGL is surgical resection; to avoid the lifelong consequences of bilateral adrenalectomy, cortex-sparing adrenalectomy is the treatment of choice.
约24%的嗜铬细胞瘤（PCC）和交感神经节细胞瘤（sPGL）出现在家族性癌症综合征中，包括2型多发性内分泌腺瘤病、冯·希佩尔-林道病、1型神经纤维瘤病和PCC-副神经节瘤综合征。识别这些综合征对患者及其亲属至关重要。手术切除是PCC和sPGL的首选治疗方法，但对于双侧或多发肿瘤患者的管理存在争议。
检索了截至2009年PubMed、Ovid和Embase网站上关于PCC、sPGL、遗传综合征及其治疗的相关医学文献。
对于患有PCC或sPGL的患者，这些综合征的基因检测应成为常规临床实践。患者应转诊至临床遗传学家处。已证实存在突变的患者及其家庭成员应纳入标准化筛查方案。PCC和PGL的首选治疗方法是手术切除；为避免双侧肾上腺切除的终身后果，保留肾上腺皮质的肾上腺切除术是首选治疗方法。
