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    SDH-deficient renal cell carcinoma associated with biallelic mutation in succinate dehydrogenase A: comprehensive genetic profiling and its relation to therapy response

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    Author
    McEvoy, CR; Koe, L; Choong, DY; Leong, HS; Xu, H; Karikios, D; Plew, JD; Prall, OW; Fellowes, AP; Fox, SB
    Date
    2018-03-20
    Source Title
    npj Precision Oncology
    Publisher
    NATURE PUBLISHING GROUP
    University of Melbourne Author/s
    Fox, Stephen; Xu, Huiling
    Affiliation
    Sir Peter MacCallum Department of Oncology
    Clinical Pathology
    Metadata
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    Document Type
    Journal Article
    Citations
    McEvoy, C. R., Koe, L., Choong, D. Y., Leong, H. S., Xu, H., Karikios, D., Plew, J. D., Prall, O. W., Fellowes, A. P. & Fox, S. B. (2018). SDH-deficient renal cell carcinoma associated with biallelic mutation in succinate dehydrogenase A: comprehensive genetic profiling and its relation to therapy response. NPJ PRECISION ONCOLOGY, 2 (1), https://doi.org/10.1038/s41698-018-0053-2.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/254868
    DOI
    10.1038/s41698-018-0053-2
    Abstract
    Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare RCC subtype that is caused by biallelic mutation of one of the four subunits of the SDH complex (SDHA, B, C, and D) and results in inactivation of the SDH enzyme. Here we describe a case of genetically characterized SDH-deficient RCC caused by biallelic (germline plus somatic) SDHA mutations. SDHA pathogenic variants were detected using comprehensive genomic profiling and SDH absence was subsequently confirmed by immunohistochemistry. Very little is known regarding the genomic context of SDH-deficient RCC. Interestingly we found genomic amplifications commonly observed in RCC but there was an absence of additional variants in common cancer driver genes. Prior to genetic testing a PD-1 inhibitor treatment was administered. However, following the genetic results a succession of tyrosine kinase inhibitors were administered as targeted treatment options and we highlight how the genetic results provide a rationale for their effectiveness. We also describe how the genetic results benefited the patient by empowering him to adopt dietary and lifestyle changes in accordance with knowledge of the mechanisms of SDH-related tumorigenesis.

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