^
    Back
    Association details:
    Biomarker:FLCN mutation
    Cancer:Renal Cell Carcinoma
    Drug:everolimus (mTOR inhibitor)
    Direction:Sensitive
    Evidence:
    Evidence Level:
    Sensitive: C2 – Inclusion Criteria
    Source:
    clinicaltrials.gov
    Title:

    Everolimus Therapy in People With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer

    Excerpt:
    ...- Patients must have a clinical diagnosis of Birt-Hogg-Dub (Copyright) Syndrome (clinical features consistent with BHD and /or a germline Folliculin (FLCN) mutation) and the presence of localized, locally advanced or advanced, renal tumor(s)....
    Trial ID:
    NCT02504892
    Evidence Level:
    Sensitive: C4 – Case Studies
    Source:
    Hinyokika Kiyo
    Title:

    [A case of metastatic renal cell carcinoma associated with Birt-Hogg-Dubé syndrome treated with molecular-targeting agents]

    Excerpt:
    Loss of FLCN function has been shown to result in the upregulation of the PI3K/mTORC1 pathway in both in vitro experiments and in vivo FLCN knockout mice models. Despite its use as the sixth-line systematic treatment, the mTOR inhibitor everolimus exhibited a relatively long-term effect as compared with the previously used tyrosine kinase inhibitors and in contrast to the results in the RECORD-1 clinical trial.
    DOI:
    http://hdl.handle.net/2433/178386