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

Authors :
Tuthill M
Barod R
Pyle L
Cook T
Chew S
Gore M
Maxwell P
Eisen T
Source :
BMJ case reports [BMJ Case Rep] 2009; Vol. 2009. Date of Electronic Publication: 2009 Feb 16.
Publication Year :
2009

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.<br />Trial Registration Number: a6181037.

Details

Language :
English
ISSN :
1757-790X
Volume :
2009
Database :
MEDLINE
Journal :
BMJ case reports
Publication Type :
Academic Journal
Accession number :
21686655
Full Text :
https://doi.org/10.1136/bcr.08.2008.0732