Open AccessA report of succinate dehydrogenase B deficiency associated with metastatic papillary renal cell carcinoma: successful treatment with the multi-targeted tyrosine kinase inhibitor sunitinib
Author(s) -
Mark Tuthill,
Ravi Barod,
Linda Pyle,
Terry Cook,
Shern L. Chew,
Martin Gore,
Patrick H. Maxwell,
Tim Eisen
Publication year - 2009
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr.08.2008.0732
Subject(s) - sunitinib , medicine , tyrosine kinase inhibitor , renal cell carcinoma , paraganglioma , papillary renal cell carcinomas , cancer research , tyrosine kinase , sdhb , oncology , cancer , pathology , mutation , receptor , germline mutation , gene , biology , biochemistry
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.