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Published 16 February 2009
Cite this as: BMJ Case Reports 2009 [doi:10.1136/bcr.08.2008.0732]
Copyright © 2009 by the BMJ Publishing Group Ltd.

Novel treatment (new drug/intervention; established drug/procedure in new situation)

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

1 Royal Marsden NHS Foundation Trust, Medical Oncology, London, SW3 6JJ, UK
2 Imperial College London, Renal Section, London, W12 ONN, UK
3 Willam Harvey Research Institute, Barts and The London, Queen Mary’s School of Medicine and Dentistry, London, EC1M 6BQ, UK
4 Cambridge University, Cambridge, CB2 OQQ, UK

Correspondence to:
marktuthill{at}doctors.org.uk

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


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Loss of heterozygosity in SDHB locus on chromosome 1 in a subject with a metastatic papillary type I
Dr. Umasuthan Srirangalingam, et al.
BMJ Case Reports Online, 1 May 2009 [Full text]

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