Department of Paediatric Surgery, The Royal Hospital for Sick Children, Yorkhill, G3 8SJ Glasgow, United Kingdom.
J Pediatr Surg. 2010 Feb;45(2):383-6. doi: 10.1016/j.jpedsurg.2009.10.082.
The aim is to identify the incidence of genetic mutations and outcome of children presenting with phaeochromocytoma/paraganglioma (PGL) to a single paediatric surgical service to determine the need for genetic counselling in associated kindreds.
A retrospective case note review was undertaken of all cases treated between 1998 and 2008 with particular reference to presentation, management, and predisposing genetic conditions.
Seven cases (4 male, 3 female) were identified (median age, 13 years; interquartile range, 9-16). Three cases had a family history of phaeochromocytoma/PGL. All presented with neurologic symptoms related to hypertension, including headaches (n = 5), hemiparesis (n = 2), facial palsy, and hemianopia. All underwent surgical resection. Five patients had meta-iodobenzylguanidine (MIBG) therapy for apparently malignant features. All cases were found to have a predisposing genetic mutation: von Hippel-Lindau (n = 3), succinate dehydrogenase mutations (n = 3), and multiple endocrine neoplasia (n = 1). All patients are alive after a median follow-up of 5 (interquartile range, 2-7) years.
All 7 cases had a familial genetic mutation identified, and none arose de novo. We advocate genetic counselling for all families of children diagnosed with phaeochromocytoma/PGL with lifelong surveillance tailored to the underlying syndrome because of the increased risk of synchronous and metachronous tumours associated with these genetic syndromes.
目的是确定在单一儿科外科服务中出现的嗜铬细胞瘤/副神经节瘤（PGL）患儿的基因突变发生率和结果，以确定相关家族是否需要遗传咨询。
对 1998 年至 2008 年间治疗的所有病例进行了回顾性病历审查，特别关注表现、管理和易患遗传条件。
共发现 7 例（4 男，3 女）（中位数年龄为 13 岁；四分位间距为 9-16）。3 例有嗜铬细胞瘤/PGL 的家族史。所有患者均因高血压相关的神经症状就诊，包括头痛（n=5）、偏瘫（n=2）、面瘫和偏盲。所有患者均接受了手术切除。5 例患者因疑似恶性特征接受了间碘苄胍（MIBG）治疗。所有病例均发现有易患遗传突变：von Hippel-Lindau（n=3）、琥珀酸脱氢酶突变（n=3）和多发性内分泌肿瘤（n=1）。在中位随访 5 年后（四分位间距为 2-7 年），所有患者均存活。
所有 7 例患儿均发现家族遗传突变，无一例为新发突变。我们主张对所有诊断为嗜铬细胞瘤/PGL 的儿童的家庭进行遗传咨询，并根据潜在综合征进行终身监测，因为这些遗传综合征与相关肿瘤的同步和异时性肿瘤风险增加。
