Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited condition with a predisposition to the development of a variety of tumors including pheochromocytomas. A number of cancer surveillance protocols for patients with VHL have been developed, all of which are based on expert opinion. We report a case of two brothers with a strong family history of VHL type 2 due to a pathogenic germline VHL variant, specifically, a surface missense substitution, with a rapidly progressive clinical course that both presented with a large adrenal mass. Both brothers presented with large pheochromocytomas, the earliest presentation being at age 7, despite routine screening. The rapid progression and early presentation of these patients raises an important discussion around the commonly used surveillance protocols for pheochromocytoma in pediatric patients with VHL and missense mutations. We conclude that a more accelerated surveillance protocol may be adequate for VHL families with a high pheochromocytoma risk.

Von Hippel-Lindau (VHL) 病是一种常染色体显性遗传病，易发生包括嗜铬细胞瘤在内的多种肿瘤。已经制定了许多针对 VHL 患者的癌症监测方案，所有这些方案均基于专家意见。我们报告了一例由于致病性种系 VHL 变异，特别是表面错义替换，具有强烈 2 型 VHL 家族史的兄弟的病例，其临床过程进展迅速，均表现为肾上腺肿块。尽管常规筛查，两兄弟都出现了大型嗜铬细胞瘤，最早出现在 7 岁。这些患者的快速进展和早期表现引发了围绕 VHL 和错义突变儿科患者嗜铬细胞瘤常用监测方案的重要讨论。我们得出结论，对于具有高嗜铬细胞瘤风险的 VHL 家庭，更快速的监测方案可能就足够了。