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    BIOMARKER:

    FLCN mutation

    i
    Other names: FLCN, Folliculin, BHD Skin Lesion Fibrofolliculoma Protein, Birt-Hogg-Dube Syndrome Protein, BHD, DENND8B, FLCL
    Entrez ID:
    201163
    Related biomarkers:
    CNA
    1year
    GATA3 Expression in Solid Vimentin-Negative Eosinophilic Renal Epithelial Tumors-A Comprehensive Study of 48 Tumors. (PubMed, Int J Surg Pathol)
    Therefore, GATA3 could be useful as a panel of immunohistochemical stains that are used in diagnostic algorithm of vimentin-negative solid eosinophilic renal tumors. However, one should not solely rely on GATA3 as vimentin-negative solid eosinophilic renal tumors can have overlapping GATA3 expression.
    Journal
    |
    VIM (Vimentin) • FLCN (Folliculin) • GATA3 (GATA binding protein 3)
    |
    VIM expression • FLCN mutation
    over1year
    DIAGNOSIS OF GENETIC VARIANT CARRIERS IN A PATIENT WITH ASYMPTOMATIC BIRT-HOGG-DUBÉ SYNDROME: A CASE REPORT (PubMed, Nihon Hinyokika Gakkai Zasshi)
    Genetic examination, performed at the request of the second daughter, confirmed that she carried the same genetic variant as her mother. This diagnosis prompted the second daughter to begin managing her health via periodic imaging tests.
    Journal
    |
    FLCN (Folliculin)
    |
    FLCN mutation
    over1year
    Genetically driven predisposition leads to an unusually genomic unstable renal cell carcinoma. (PubMed, Discov Oncol)
    While BRCA1 and RAD51 germline mutations are well-characterised in breast and ovarian cancer, their role in renal cell carcinoma is still largely unexplored. The genomic instability detected in this case of renal cell carcinoma, along with the presence of unusual mutations, might offer support to clinicians for the development of patient-tailored therapies.
    Journal • Tumor mutational burden • BRCA Biomarker
    |
    TMB (Tumor Mutational Burden) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA1 (Breast cancer 1, early onset) • VHL (von Hippel-Lindau tumor suppressor) • RAD51 (RAD51 Homolog A) • FH (Fumarate Hydratase) • FLCN (Folliculin)
    |
    BRCA1 mutation • TMB-H • VHL mutation • MET mutation • FLCN mutation • RAD51 mutation
    over1year
    The Prevalence and Radiologic Features of Renal Cancers Associated with FLCN, BAP1, SDH, and MET Germline Mutations. (PubMed, Radiol Imaging Cancer)
    Within the study sample size limits, imaging findings for hereditary RCC overlapped with those of nonhereditary RCC, and the prevalence of other associated benign solid renal lesions (other than complex cysts) was up to 11%. Keywords: Familial Renal Cell Carcinoma, Birt-Hogg-Dubé Syndrome, Carcinoma, Renal Cell, Paragangliomas, Urinary, Kidney
    Journal
    |
    MET (MET proto-oncogene, receptor tyrosine kinase) • BAP1 (BRCA1 Associated Protein 1) • FLCN (Folliculin)
    |
    BAP1 mutation • MET mutation • FLCN mutation
    almost2years
    Primary Sarcomas of the Bladder (Bsarc) and Prostate (Psarc): A Genomic Landscape Study (USCAP 2024)
    GA in TP53, ATRX and RB1 were the most common GA identified in Bsarc and Psarc. Bsarc have more than 2-fold more GA compared to Psarc. Further study of both Bsarc and Psarc designed to further subclassify and design novel treatment for these rare tumors appears warranted.
    Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • ATRX (ATRX Chromatin Remodeler) • TSC2 (TSC complex subunit 2) • BCOR (BCL6 Corepressor) • ERG (ETS Transcription Factor ERG) • TMPRSS2 (Transmembrane serine protease 2) • FLCN (Folliculin) • STAT6 (Signal transducer and activator of transcription 6) • NAB2 (NGFI-A Binding Protein 2)
    |
    PD-L1 expression • PTEN mutation • TMPRSS2-ERG fusion • FLCN mutation
    |
    PD-L1 IHC 22C3 pharmDx
    almost2years
    Folliculin (FLCN) Alterations in Thyroid Carcinoma: Incidence, Significance and Extraordinary Role as a Driver Gene in an Aggressive Mixed Papillary and Oncocytic Thyroid Carcinoma (USCAP 2024)
    FLCN alterations are exceedingly rare in TCa with an incidence of pathogenic changes below 1%. However, FLCN may exceptionally serve as a key driver mutation in TCa, based on our index patient. Identification of FLCN mutations may be clinically important due to possible presence of a germline mutation predisposing to renal tumors and potential responsiveness to immune checkpoint inhibitors.
    PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • RB1 (RB Transcriptional Corepressor 1) • TTF1 (Transcription Termination Factor 1) • NKX2-1 (NK2 Homeobox 1) • FLCN (Folliculin) • PAX8 (Paired box 8)
    |
    TP53 mutation • TMB-L • RB1 mutation • TTF1 expression + PD-L1 expression • FLCN mutation • NKX2-1 expression • RB1 mutation + TP53 mutation • TTF1 expression
    |
    MSK-IMPACT
    almost2years
    Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome (clinicaltrials.gov)
    P=N/A, N=104, Completed, University of Cincinnati | Unknown status --> Completed
    Trial completion
    |
    FLCN (Folliculin)
    |
    FLCN mutation
    almost2years
    Birt-Hogg-Dubé syndrome in an overall view: Focus on the clinicopathological prospects in renal tumors. (PubMed, Semin Diagn Pathol)
    Emphasis is placed on clinicopathological features, specifically focusing on BHD-associated renal tumors. Collectively, this review aims to present the latest insights into BHD which benefits in the early detection, therapeutic decision-making, and prognosis prediction in BHD cases, and deepen the understanding of sporadic renal tumors.
    Review • Journal
    |
    KIT (KIT proto-oncogene, receptor tyrosine kinase) • FLCN (Folliculin)
    |
    FLCN mutation
    almost2years
    Pathogenic Germline Mutational Landscape in Patients With Renal Cell Carcinoma and Associated Clinicopathologic Features. (PubMed, JCO Precis Oncol)
    Among patients with RCC, unselected for a known familial predisposition, 13.4% had P/LP variants. Almost half of patients with P/LP variants had a potentially targetable mutation. Targeted gene panel testing is a feasible option for patients, particularly if syndromic features are present. Age and family history were not associated with P/LP variants. Future studies are needed to optimize current genetic evaluation criteria to expand the detection of patients with RCC who may have germline mutations.
    Journal
    |
    MLH1 (MutL homolog 1) • CHEK2 (Checkpoint kinase 2) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • FLCN (Folliculin)
    |
    CHEK2 mutation • SDHB mutation • FLCN mutation
    almost2years
    Primary sarcoma of prostate: A genomic landscape study. (ASCO-GU 2024)
    Prostate sarcoma is an exceedingly rare primary cancer of the prostate with limited opportunities for targeted therapy or immunotherapy strategies. These tumors do not appear to be driven by “targetable� gene fusions and individual “targetable� mutations are uncommon.
    PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • ATRX (ATRX Chromatin Remodeler) • TSC2 (TSC complex subunit 2) • BCOR (BCL6 Corepressor) • ERG (ETS Transcription Factor ERG) • TMPRSS2 (Transmembrane serine protease 2) • FLCN (Folliculin) • STAT6 (Signal transducer and activator of transcription 6) • NAB2 (NGFI-A Binding Protein 2)
    |
    PD-L1 expression • TMPRSS2-ERG fusion • FLCN mutation
    |
    PD-L1 IHC 22C3 pharmDx
    2years
    Kidney cancer: Links between hereditary syndromes and sporadic tumorigenesis. (PubMed, Semin Diagn Pathol)
    In contrast, mutations in FLCN, the causative gene for Birt-Hogg-Dube syndrome, are rarely found in sporadic RCC. Here, we focus on the genes and pathways that link hereditary and sporadic RCC.
    Review • Journal
    |
    BAP1 (BRCA1 Associated Protein 1) • VHL (von Hippel-Lindau tumor suppressor) • FH (Fumarate Hydratase) • FLCN (Folliculin)
    |
    FLCN mutation
    2years
    Genetic diffuse cystic lung disease in adults (PubMed, Rev Mal Respir)
    Future challenges in these often under-recognized diseases include the need to reduce the delay to diagnosis, and to develop potentially curative treatments. In France, physicians can seek help from the network of reference centers for the diagnosis and management of rare pulmonary diseases.
    Review • Journal
    |
    TSC2 (TSC complex subunit 2) • TSC1 (TSC complex subunit 1) • FLCN (Folliculin)
    |
    TSC1 mutation • TSC2 mutation • FLCN mutation