Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne NE1 3BZ, UK.
Fam Cancer. 2009;8(3):257-60. doi: 10.1007/s10689-009-9234-z. Epub 2009 Jan 29.
Mutations in SDHB are one of the causes of hereditary paraganglioma syndrome. Germline mutations in SDHB predispose to the development of head and neck paragangliomas and phaeochromocytomas. Renal tumours are also increasingly being reported as component tumours in hereditary paragangliomatosis associated with mutations in SDHB. We present the first reported case of a family in whom an individual shown to carry a mutation in SDHB developed a renal oncocytoma. We review other reports of renal tumours associated with SDHB-associated hereditary paragangliomatosis and suggest that various histological subtypes of renal tumours are part of this condition. This observation indicates that SDHB-associated hereditary paragangliomatosis is unlike most tumour predisposition syndromes associated with the development of renal tumours which are usually associated with specific histological sub-types. The increasing recognition of the involvement of renal tumours in SDHB mutation carriers suggests that renal screening is likely to be valuable for these patients. SDHB mutations should also be considered in the context of genetic testing when renal tumours, regardless of histopathology, present in families with other tumours consistent hereditary paraganglioma syndrome.
SDHB 基因突变是遗传性副神经节瘤综合征的原因之一。SDHB 种系突变使头颈部副神经节瘤和嗜铬细胞瘤易于发生。肾肿瘤也越来越多地被报道为与 SDHB 基因突变相关的遗传性副神经节瘤瘤相关的组成性肿瘤。我们报告了首例携带 SDHB 基因突变的个体发生肾嗜酸细胞瘤的家族病例。我们回顾了其他与 SDHB 相关的遗传性副神经节瘤瘤相关的肾肿瘤报告，并提出各种组织学亚型的肾肿瘤是这种疾病的一部分。这一观察结果表明，SDHB 相关的遗传性副神经节瘤瘤与大多数与肾肿瘤发生相关的肿瘤易感性综合征不同，后者通常与特定的组织学亚型相关。越来越多的人认识到肾肿瘤在 SDHB 突变携带者中的参与，这表明肾筛查对这些患者可能是有价值的。当无论组织病理学如何，具有其他肿瘤的家族中存在与遗传性副神经节瘤综合征一致的肾肿瘤时，无论组织病理学如何，在进行基因检测时都应考虑 SDHB 突变。
