Fife Kate, Warren Anne
Department of Oncology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
BMJ Case Rep. 2017 Aug 7;2017:bcr-2017-219626. doi: 10.1136/bcr-2017-219626.
Germline mutations in the succinate dehydrogenase B (SDHB) gene are associated with a rare renal cancer with a young age of onset. It is important to raise awareness of this condition as it is dominantly inherited and is associated with other neoplasms. The diagnosis should be considered in patients with renal cancers with distinctive histology. There is little guidance in the literature about how to treat metastatic SDHB renal cancers. We report a confirmed partial response to treatment with a vascular endothelial growth factor receptor tyrosine kinase inhibitor, pazopanib.
琥珀酸脱氢酶B(SDHB)基因的种系突变与一种罕见的、发病年龄较轻的肾癌相关。提高对这种疾病的认识很重要,因为它是显性遗传的,并且与其他肿瘤有关。对于具有独特组织学特征的肾癌患者应考虑进行诊断。关于如何治疗转移性SDHB肾癌,文献中几乎没有指导意见。我们报告了使用血管内皮生长因子受体酪氨酸激酶抑制剂帕唑帕尼治疗后出现了确诊的部分缓解。