Article Text

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
  1. Mark Tuthill1,
  2. Ravi Barod2,
  3. Linda Pyle1,
  4. Terry Cook2,
  5. Shern Chew3,
  6. Martin Gore1,
  7. Patrick Maxwell2,
  8. Tim Eisen4
  1. 1
    Royal Marsden NHS Foundation Trust, Medical Oncology, London, SW3 6JJ, UK
  2. 2
    Imperial College London, Renal Section, London, W12 ONN, UK
  3. 3
    Willam Harvey Research Institute, Barts and The London, Queen Mary’s School of Medicine and Dentistry, London, EC1M 6BQ, UK
  4. 4
    Cambridge University, Cambridge, CB2 OQQ, UK
  1. 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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Footnotes

  • 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.

  • Patient consent: Patient/guardian consent was obtained for publication