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本文引用的文献

1
Efficacy of sunitinib and sorafenib in metastatic papillary and chromophobe renal cell carcinoma.舒尼替尼和索拉非尼在转移性乳头状和嫌色性肾细胞癌中的疗效。
J Clin Oncol. 2008 Jan 1;26(1):127-31. doi: 10.1200/JCO.2007.13.3223.
2
Circulating protein biomarkers of pharmacodynamic activity of sunitinib in patients with metastatic renal cell carcinoma: modulation of VEGF and VEGF-related proteins.舒尼替尼在转移性肾细胞癌患者中药效学活性的循环蛋白生物标志物：VEGF及VEGF相关蛋白的调节
J Transl Med. 2007 Jul 2;5:32. doi: 10.1186/1479-5876-5-32.
3
Sunitinib versus interferon alfa in metastatic renal-cell carcinoma.舒尼替尼与干扰素α治疗转移性肾细胞癌的对比研究
N Engl J Med. 2007 Jan 11;356(2):115-24. doi: 10.1056/NEJMoa065044.
4
Histologic subtype of metastatic renal cell carcinoma predicts response to combined immunochemotherapy with interleukin 2, interferon alpha and 5-fluorouracil.转移性肾细胞癌的组织学亚型可预测白细胞介素2、α干扰素和5-氟尿嘧啶联合免疫化疗的反应。
Eur Urol. 2007 Jun;51(6):1625-31; discussion 1631-2. doi: 10.1016/j.eururo.2006.11.003. Epub 2006 Nov 13.
5
Treatment outcome for metastatic papillary renal cell carcinoma patients.转移性乳头状肾细胞癌患者的治疗结果。
Cancer. 2006 Dec 1;107(11):2617-21. doi: 10.1002/cncr.22340.
6
Sunitinib in patients with metastatic renal cell carcinoma.舒尼替尼用于转移性肾细胞癌患者。
JAMA. 2006 Jun 7;295(21):2516-24. doi: 10.1001/jama.295.21.2516.
7
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.SDHB和SDHC的突变分析：散发性头颈部副神经节瘤以及家族性副神经节瘤和/或嗜铬细胞瘤中的新型种系突变
BMC Med Genet. 2006 Jan 11;7:1. doi: 10.1186/1471-2350-7-1.
8
Activity of SU11248, a multitargeted inhibitor of vascular endothelial growth factor receptor and platelet-derived growth factor receptor, in patients with metastatic renal cell carcinoma.血管内皮生长因子受体和血小板衍生生长因子受体多靶点抑制剂SU11248在转移性肾细胞癌患者中的活性
J Clin Oncol. 2006 Jan 1;24(1):16-24. doi: 10.1200/JCO.2005.02.2574. Epub 2005 Dec 5.
9
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.琥珀酸脱氢酶突变数据库：一个关于嗜铬细胞瘤、副神经节瘤和线粒体复合物II缺乏症中涉及的琥珀酸脱氢酶序列变异的在线资源。
BMC Med Genet. 2005 Nov 16;6:39. doi: 10.1186/1471-2350-6-39.
10
A molecular classification of papillary renal cell carcinoma.乳头状肾细胞癌的分子分类
Cancer Res. 2005 Jul 1;65(13):5628-37. doi: 10.1158/0008-5472.CAN-05-0533.

一例与转移性乳头状肾细胞癌相关的琥珀酸脱氢酶B缺乏症报告：多靶点酪氨酸激酶抑制剂舒尼替尼治疗成功

A report of succinate dehydrogenase B deficiency associated with metastatic papillary renal cell carcinoma: successful treatment with the multi-targeted tyrosine kinase inhibitor sunitinib.

作者信息

Tuthill Mark, Barod Ravi, Pyle Linda, Cook Terry, Chew Shern, Gore Martin, Maxwell Patrick, Eisen Tim

机构信息

Royal Marsden NHS Foundation Trust, Medical Oncology, London, SW3 6JJ, UK.

出版信息

BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.08.2008.0732. Epub 2009 Feb 16.

DOI:10.1136/bcr.08.2008.0732
PMID:21686655
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3028009/
Abstract

UNLABELLED

We report a patient who initially presented with an abdominal paraganglioma and subsequently metastatic papillary cell renal cancer. Genetic analysis revealed a 141 G>A (exon 2) Trp47X mutation within the succinate dehydrogenase B gene. Treatment with the novel multi-targeted tyrosine kinase inhibitor sunitinib resulted in a sustained partial response and reduced the level of the angiogenic marker PIGF.

TRIAL REGISTRATION NUMBER

a6181037.

摘要

未标记

我们报告了一名最初表现为腹部副神经节瘤，随后发生转移性乳头状肾细胞癌的患者。基因分析显示琥珀酸脱氢酶B基因存在141G>A（外显子2）Trp47X突变。使用新型多靶点酪氨酸激酶抑制剂舒尼替尼治疗产生了持续的部分缓解，并降低了血管生成标志物PIGF的水平。

试验注册号

a6181037。