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

Mark Tuthill | Zendy; Ravi Barod | Zendy; L Pyle | Zendy; Terence Cook | Zendy; Shern L. Chew | Zendy; Martin Gore | Zendy; Patrick H. Maxwell | Zendy; Timothy Eisen | Zendy

Open Access

A 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,

L Pyle,

Terence Cook,

Shern L. Chew,

Martin Gore,

Patrick H. Maxwell,

Timothy 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.

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