A report of succinate dehydrogenase B deficiency associated with metastatic papillary renal cell carcinoma: successful treatment with the multi-targeted tyrosine kinase inhibitor sunitinib
- Mark Tuthill1,
- Ravi Barod2,
- Linda Pyle1,
- Terry Cook2,
- Shern Chew3,
- Martin Gore1,
- Patrick Maxwell2,
- Tim Eisen4
- 1Royal Marsden NHS Foundation Trust, Medical Oncology, London, SW3 6JJ, UK
- 2Imperial College London, Renal Section, London, W12 ONN, UK
- 3Willam Harvey Research Institute, Barts and The London, Queen Mary’s School of Medicine and Dentistry, London, EC1M 6BQ, UK
- 4Cambridge University, Cambridge, CB2 OQQ, UK
- marktuthill{at}doctors.org.uk
- Published 16 February 2009
Summary
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
Footnotes
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Competing interests: Mark Tuthill, none to declare; Ravi Barod, none to declare; Linda Pyle, none to declare; Terry Cook, none to declare; Shern Chew, none to declare; Patrick Maxwell, ReOx Ltd: Director, consultant, equity holder; Martin Gore, Pfizer: honoraria, advisory board member, research support; Tim Eisen, Pfizer: honoraria, advisory board member, research support.
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Patient consent: Patient/guardian consent was obtained for publication
