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    GENE:

    FLCN (Folliculin)

    i
    Other names: FLCN, Folliculin, BHD Skin Lesion Fibrofolliculoma Protein, Birt-Hogg-Dube Syndrome Protein, BHD, DENND8B, FLCL
    7d
    Hyperactivation of mTORC1 signaling mediates folliculin deficiency-induced pulmonary cyst formation in Birt-Hogg-Dubé syndrome. (PubMed, J Clin Invest)
    Attenuation of mTORC1 activity by knocking out Raptor gene (Rptor) or pharmacologic inhibition using rapamycin substantially rescued the pulmonary pathology caused by Flcn deletion in mice. Taken together, these human and mouse data support a model in which mTORC1 hyperactivation drives pulmonary cystic pathology in BHD.
    Journal
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    FLCN (Folliculin) • RPTOR (Regulatory Associated Protein Of MTOR Complex 1)
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    sirolimus
    16d
    LEAH: Cohort Evaluation of Body Fluids Early Detection of Cancer in High-risk Individuals (clinicaltrials.gov)
    P=N/A, N=5909, Not yet recruiting, Gustave Roussy, Cancer Campus, Grand Paris | Initiation date: Jun 2025 --> Feb 2026
    Trial initiation date
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • RUNX1 (RUNX Family Transcription Factor 1) • BAP1 (BRCA1 Associated Protein 1) • ETV6 (ETS Variant Transcription Factor 6) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • RAD51D (RAD51 paralog D) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2) • DICER1 (Dicer 1 Ribonuclease III) • FLCN (Folliculin) • PRSS1 (Serine Protease 1) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TXNIP (Thioredoxin Interacting Protein) • ANKRD26 (Ankyrin Repeat Domain Containing 26) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • HOXB13 (Homeobox B13)
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    TP53 mutation • PTEN deletion
    17d
    Germline genomic profiling of patients with early-onset colorectal cancer. (PubMed, ESMO Gastrointest Oncol)
    As FLCN and SDH are not currently included in the current guidelines for EO-CRC, PVs/LPVs in these genes may be underestimated. To better understand their significance, we recommend including their assessment in all patients with EO-CRC.
    Journal
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    BRAF (B-raf proto-oncogene) • FLCN (Folliculin) • SDHAF2 (Succinate Dehydrogenase Complex Assembly Factor 2)
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    BRAF mutation
    23d
    Describing the Mutational Characteristics of Myxofibrosarcoma: An AACR Project GENIE Analysis. (PubMed, Anticancer Res)
    As we enter the era of precision medicine, classifying cancers by molecular markers will become increasingly valuable. Our investigation enriches the literature by identifying novel mutations and mutations exclusive to certain demographic groups. These findings support a shift beyond histology toward molecularly informed diagnostics and pathway-directed therapeutic hypotheses for MFS. Next steps should validate candidate markers in independent cohorts and link genomic profiles to clinicopathologic features, disease course, and treatment response to improve clinical translation. These observations will help shape diagnostics and targeted therapies against MFS.
    Journal
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    TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • ETV6 (ETS Variant Transcription Factor 6) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • ATRX (ATRX Chromatin Remodeler) • NOTCH3 (Notch Receptor 3) • NCOR1 (Nuclear Receptor Corepressor 1) • FLCN (Folliculin) • ALOX12B (Arachidonate 12-Lipoxygenase) • MAP2K4 (Mitogen-Activated Protein Kinase Kinase 4) • NCOA2 (Nuclear Receptor Coactivator 2) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)
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    TP53 mutation • CDKN2A deletion
    1m
    The lysosomal LAMTOR-Rag complex functions as a checkpoint for antiviral interferon production. (PubMed, EMBO J)
    Disruption of the LAMTOR-Rag-FLCN-p38 axis impairs IFN induction in vitro and antiviral responses in vivo, underscoring its physiological significance. Our findings support the role of the lysosome as a central signaling hub integrating metabolic and immune cues, suggesting future directions for potential therapeutic strategies against viral infections.
    Journal
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    FLCN (Folliculin) • IFNB1 (Interferon Beta 1)
    2ms
    Select updates in the pathology of kidney, testis, and penile cancer for 2026: Including FLCN-mutated (kidney) tumors, paratesticular mesothelial tumors, and TP53/HPV status in penile squamous cell carcinoma. (PubMed, Hum Pathol)
    Testicular/paratesticular updates address diagnostic criteria for mesothelium-derived lesions of the tunica vaginalis, recommended immunohistochemical panels for testicular sex cord-stromal tumors, and recommended nomenclature, specifically the use of "embryonic-type neuroectodermal tumor" rather than primitive neuroectodermal tumor (PNET) in the context of somatic transformation of testicular germ cell tumors. For penile squamous cell carcinoma, the summary emphasizes prognostic biomarkers, notably TP53 alterations and high risk HPV status, and nuances pertaining to pathologic staging.
    Review • Journal
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    TP53 (Tumor protein P53) • FLCN (Folliculin) • GPNMB (Glycoprotein Nmb)
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    TP53 mutation
    2ms
    First Description of Bilateral Lung Transplantation in Patient with Birt-Hogg-Dubé Syndrome: A Case Report and Surgical Feasibility Insight. (PubMed, Life (Basel))
    The patient underwent a double lung transplant due to a life-threatening recurrent pneumothorax. This case highlights the importance of multidisciplinary care and demonstrates the feasibility of transplantation in advanced cases of BHDS (despite prior pleurodesis).
    Journal
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    FLCN (Folliculin)
    2ms
    Birt-Hogg-Dubé Syndrome: A Mini Review of the Clinical Manifestations, Investigation, and Management. (PubMed, J Pers Med)
    BHD syndrome is generally an underdiagnosed condition due to the great variability of its clinical picture, thus highlighting the importance of genetic testing for FLCN mutations in suspected cases. The application of ERN GENTURIS guidelines in clinical practice can facilitate early, accurate diagnosis of the disease and optimal personalized management of the patients.
    Review • Journal
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    FLCN (Folliculin)
    2ms
    Recent developments in eosinophilic renal neoplasms: what's new, true and important? (PubMed, Histopathology)
    The recent developments and acquired knowledge on newer renal entities with eosinophilic cytoplasm opened insights into the clinical, pathological, immunohistochemical, molecular, epidemiological aspects, and the prognosis of these entities. We emphasize the role of routine morphology, aided by appropriate and select immunohistochemistry, as essential keys for diagnosing eosinophilic renal tumours.
    Review • Journal
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    ALK (Anaplastic lymphoma kinase) • FH (Fumarate Hydratase) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • FLCN (Folliculin) • TFEB (Transcription Factor EB 2)
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    ALK rearrangement
    2ms
    Asynchronous Bilateral Pneumothorax in a Patient With Birt-Hogg-Dubé Syndrome: A Case Report. (PubMed, Cureus)
    This case highlights the potential for misdiagnosis or delayed diagnosis of BHD syndrome in patients presenting with spontaneous pneumothorax. A detailed family history, early recognition, and multidisciplinary evaluation are essential for early and appropriate management.
    Journal
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    FLCN (Folliculin)
    3ms
    Folliculin-interacting protein 1: From molecular structure to disease and therapeutic targets. (PubMed, Biochem Pharmacol)
    It specifically emphasizes the protein structural basis of FNIP1 as a therapeutic target for diseases such as neurodegenerative diseases, type 2 diabetes, and tumors, as well as the potential for developing FNIP1-related targeted drugs. We aim to construct a conceptual framework for developing precision therapeutic strategies targeting FNIP1-centric regulatory nodes by establishing functional correlations between FNIP1 and other metabolic regulators.
    Review • Journal
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    FLCN (Folliculin)