Dataset Information
A report of succinate dehydrogenase B deficiency associated with metastatic papillary renal cell carcinoma: successful treatment with the multi-targeted tyrosine kinase inhibitor sunitinib.
Ontology highlight
ABSTRACT:
SUBMITTER: Tuthill M
PROVIDER: S-EPMC3028009 | biostudies-literature | 2009
REPOSITORIES: biostudies-literature
Publications
A report of succinate dehydrogenase B deficiency associated with metastatic papillary renal cell carcinoma: successful treatment with the multi-targeted tyrosine kinase inhibitor sunitinib.
BMJ case reports 20090216
<h4>Unlabelled</h4>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.<h4>Trial registration number</h4>a6181037. ...[more]
