AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsInformation ScienceHealth Care
Kidney NeoplasmsNeoplastic Syndromes, HereditaryCarcinoma, PapillaryProto-Oncogene Proteins c-metCystsCarcinoma, Renal CellCarcinomaSyndromeChromosome DuplicationAngelman SyndromeVon Hippel-Lindau Tumor Suppressor ProteinCyst FluidAdenocarcinoma, Clear CellCarcinoma, Squamous CellCarcinoma, HepatocellularDNA GlycosylasesOvarian Cystsvon Hippel-Lindau DiseaseEpidermal CystUbiquitin-Protein LigasesDNA-Formamidopyrimidine GlycosylaseCarcinoma in SituMediastinal CystTumor Cells, CulturedProtein Interaction MapsImmunohistochemistrySynovial CystCell Line, TumorBone CystsLiver NeoplasmsDown SyndromeBronchogenic CystNephrectomyAdenocarcinomaGene Expression Regulation, NeoplasticMetabolic Syndrome XAngiomatosisNervous SystemDermoid CystCarcinoma, Ductal, BreastCarcinoma, Basal CellTumor Suppressor ProteinsLigasesN-Glycosyl HydrolasesMice, NudePrognosisTumor Markers, BiologicalNeoplasm MetastasisGenes, Tumor SuppressorLung NeoplasmsMutationNeoplasm ProteinsRNA, MessengerNeoplasms, Multiple PrimaryTomography, X-Ray ComputedNeoplasm TransplantationTreatment OutcomeNeoplasm InvasivenessCarcinoma, Transitional CellNeoplasm StagingCucurbitacinsChromosomes, Human, Pair 3SecosteroidsOdontogenic CystsHypoxia-Inducible Factor 1, alpha SubunitCarcinoma, BronchogenicNephrotic SyndromeDNA, NeoplasmCarcinoma, Intraductal, NoninfiltratingCarcinoma, Adenoid CysticRetrospective StudiesCarcinoma, Small CellReverse Transcriptase Polymerase Chain ReactionCarcinoma, MedullaryHemangiosarcomaSjogren's SyndromeDrosophila ProteinsRadicular CystBase SequenceAntineoplastic AgentsCell ProliferationCarcinoma, LobularMolecular Sequence DataDentigerous CystCarcinoma, NeuroendocrineThyroid NeoplasmsCell DivisionHypoxia-Inducible Factor 1Breast NeoplasmsAntigens, NeoplasmTransfectionNasopharyngeal NeoplasmsKidneyBlotting, WesternApoptosisSurvival AnalysisImmunoenzyme TechniquesMesenteric CystBenzenesulfonatesDeoxyguanosine
Cell carcinomaClear cell renal carcinomaProximal renal tubular epitheliumLeiomyomatosisTumorSporadicCommonlyIncreasinglySectionsPresentRiskPatientsClear cell renalBilateral renalPathophysiologyDiagnosisFibrofolliculomasTumor suppLungFolliculinTumourSickle cell diChromophobeNeoplasmsSpontaneousClinicallyEtiologyManifestationsMutationsGeneColorectalAutosomalCancerPulmonaryIncreasinglyGeneticChronicAdditionallySymptomsMultipleAbdominalOccurOutcomeRareSkinFamiliesIndividualsSurgeryFeatures
Cell carcinoma13
  • Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disorder clinically manifested by fibrofolliculomas, renal cell carcinoma, lung cysts, and spontaneous pneumothorax. (medscape.com)
  • Renal cell carcinoma (see the image below) is the most common type of kidney cancer in adults. (medscape.com)
  • See Renal Cell Carcinoma: Recognition and Follow-up, a Critical Images slideshow, to help evaluate renal masses and determine when and what type of follow-up is necessary. (medscape.com)
  • Renal cell carcinoma may remain clinically occult for most of its course. (medscape.com)
  • Surgical resection remains the only known effective treatment for localized renal cell carcinoma, and it is also used for palliation in metastatic disease. (medscape.com)
  • Renal cell carcinoma (RCC) accounts for approximately 3% of adult malignancies and 90-95% of neoplasms arising from the kidney. (medscape.com)
  • Go to Clear Cell Renal Cell Carcinoma and Sarcomatoid and Rhabdoid Renal Cell Carcinoma for complete information on these topics. (medscape.com)
  • The tissue of origin for renal cell carcinoma (RCC) is the proximal renal tubular epithelium. (medscape.com)
  • Renal cell carcinoma develops in nearly 40% of patients with von Hippel-Lindau disease and is a major cause of death among these patients. (medscape.com)
  • Deletions of 3p occur commonly in renal cell carcinoma associated with von Hippel-Lindau disease. (medscape.com)
  • Renal cell carcinoma (RCC) is a kidney cancer that originates in the lining of the proximal convoluted tubule, a part of the very small tubes in the kidney that transport primary urine. (wikipedia.org)
  • It is now known that this classic triad of symptoms only occurs in 10-15% of cases, and is usually indicative that the renal cell carcinoma (RCC) is in an advanced stage. (wikipedia.org)
  • Kidney cancer , also known as renal cell carcinoma (RCC) , is one of the 10 most common cancers in people. (healthline.com)
Clear cell renal carcinoma1
  • Multiple or bilateral renal carcinomas have been reported in association with this syndrome, most commonly hybrid oncocytic tumors with features of chromophobe renal carcinoma (50%), followed by chromophobe renal cancer, clear cell renal carcinoma, and renal oncocytoma. (medscape.com)
Proximal renal tubular epithelium1
  • The tumour arises from the cells of the proximal renal tubular epithelium. (wikipedia.org)
Leiomyomatosis1
Tumor2
  • FLNC is a tumor suppressor gene, but the manifestations of Birt-Hogg-Dubé syndrome appear to have several mechanisms of activation. (medscape.com)
  • Genetic studies of the families at high risk for developing renal cancer led to the cloning of genes whose alteration results in tumor formation. (medscape.com)
Sporadic2
  • Renal cancer occurs in a sporadic (nonhereditary) and a hereditary form, and both forms are associated with structural alterations of the short arm of chromosome 3 (3p). (medscape.com)
  • There are two subtypes: sporadic (that is, non-hereditary) and hereditary. (wikipedia.org)
Commonly1
  • These syndromes most commonly affect tissues which have not been invaded by the cancer. (wikipedia.org)
Increasingly2
  • Pulmonary cysts and spontaneous pneumothoraces have also been increasingly reported manifestations of Birt-Hogg-Dubé syndrome. (medscape.com)
  • Increasingly, renal cell cancers are diagnosed at an earlier stage, and nephron-sparing surgery and thermal ablation are gaining acceptance as a treatment of choice for smaller tumors. (medscape.com)
Sections1
  • It is organized into sections by subtype of condition (e.g., infections, genetic syndromes, medication-caused) and includes a section of variants of acne that may be misdiagnosed. (nshealth.ca)
Present1
  • RCC is also associated with a number of paraneoplastic syndromes (PNS) which are conditions caused by either the hormones produced by the tumour or by the body's attack on the tumour and are present in about 20% of those with RCC. (wikipedia.org)
Risk1
  • Hereditary factors have a minor impact on individual susceptibility with immediate relatives of people with RCC having a two to fourfold increased risk of developing the condition. (wikipedia.org)
Patients1
  • [ 20 ] Even with these pulmonary complications of Birt-Hogg-Dubé syndrome, most patients have preserved pulmonary function or mild obstructive pulmonary disease. (medscape.com)
Clear cell renal3
  • Go to Clear Cell Renal Cell Carcinoma and Sarcomatoid and Rhabdoid Renal Cell Carcinoma for complete information on these topics. (medscape.com)
  • Multiple or bilateral renal carcinomas have been reported in association with this syndrome, most commonly hybrid oncocytic tumors with features of chromophobe renal carcinoma (50%), followed by chromophobe renal cancer, clear cell renal carcinoma, and renal oncocytoma. (medscape.com)
  • 14. Tumor suppressor activity and epigenetic inactivation of hepatocyte growth factor activator inhibitor type 2/SPINT2 in papillary and clear cell renal cell carcinoma. (nih.gov)
Bilateral renal5
  • On radiological investigation, she was found with bilateral renal cysts and a right adrenal cyst ( figure 1 ). (bmj.com)
  • The patient's daughter had recurrent spontaneous pneumothoraces and had bilateral renal cysts. (bmj.com)
  • The patient's brother also had bilateral renal cysts and had mildly dilated aortic root (under surveillance). (bmj.com)
  • A coronal section of the abdomen seen on an MRI scan revealing the patient's bilateral renal cysts (blue arrows) and the enlarged right adrenal gland (yellow arrow). (bmj.com)
  • Following assessment of the patient at a tertiary hospital's genetics clinic, a provisional diagnosis of BHD syndrome was made for her bilateral renal cysts and notable skin lesions (biopsy of one of these lesions however was reported as milia). (bmj.com)
Pathophysiology1
  • This activity reviews the causes, pathophysiology, presentation and diagnosis of renal cell cancers and highlights the role of the interprofessional team in the management of these patients. (nih.gov)
Diagnosis2
  • 13. Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management. (nih.gov)
  • The diagnosis of Birt Hogg Dubé syndrome is usually based on clinical criteria, with genetic testing of the FLCN performed to confirm the diagnosis and allow predictive testing of blood relatives. (sydneycancergenetics.com.au)
Fibrofolliculomas2
  • Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disorder clinically manifested by fibrofolliculomas, renal cell carcinoma, lung cysts, and spontaneous pneumothorax. (medscape.com)
  • 12. Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients. (nih.gov)
Tumor supp2
  • FLNC is a tumor suppressor gene, but the manifestations of Birt-Hogg-Dubé syndrome appear to have several mechanisms of activation. (medscape.com)
  • 7. Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma. (nih.gov)
Lung5
  • This condition presents with renal cysts, lung cysts and/or fibrofolliculoma (a unique skin finding). (bmj.com)
  • Her CT of the chest study did not reveal lung cysts. (bmj.com)
  • 10. Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? (nih.gov)
  • 15. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. (nih.gov)
  • When these cysts occur at the base of the lung, and cannot be explained by other causes such as long term smoking, there is a 30% chance of finding an FLCN mutation . (sydneycancergenetics.com.au)
Folliculin4
  • Birt-Hogg-Dubé syndrome is caused by a mutation in the folliculin ( FLCN ) gene that has been mapped to the short arm of chromosome 17, specifically 17p11.2. (medscape.com)
  • BHD syndrome results from the mutation of the folliculin (FLCN) gene (a tumour-suppressor gene) that codes for the FLCN protein. (bmj.com)
  • 6. Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome. (nih.gov)
  • Birt Hogg Dubé syndrome (BHD) is an inherited syndrome caused by a mutation in the Folliculin gene (FLCN). (sydneycancergenetics.com.au)
Tumour3
  • RCC is also associated with a number of paraneoplastic syndromes (PNS) which are conditions caused by either the hormones produced by the tumour or by the body's attack on the tumour and are present in about 20% of those with RCC. (wikipedia.org)
  • 17. Knockdown of Slingshot 2 (SSH2) serine phosphatase induces Caspase3 activation in human carcinoma cell lines with the loss of the Birt-Hogg-Dubé tumour suppressor gene (FLCN). (nih.gov)
  • All individuals with an oncocytoma or a chromophobe tumour diagnosed before age 50 should consider genetic testing for Birt Hogg Dubé syndrome. (sydneycancergenetics.com.au)
Sickle cell di1
  • Medullary renal carcinoma is a rare but aggressive form of renal cell cancer that seen in sickle cell disease. (nih.gov)
Chromophobe2
  • 8. Fluorescent and chromogenic in situ hybridization of CEN17q as a potent useful diagnostic marker for Birt-Hogg-Dubé syndrome-associated chromophobe renal cell carcinomas. (nih.gov)
  • Other less common subtypes are clear cell, papillary, and chromophobe malignancies. (nih.gov)
Neoplasms2
  • Renal cell carcinoma (RCC) accounts for approximately 3% of adult malignancies and 90-95% of neoplasms arising from the kidney. (medscape.com)
  • Renal cell carcinomas (RCCs), which originate within the renal cortex, are responsible for 80% to 85% of all primary renal neoplasms. (nih.gov)
Spontaneous1
  • Pulmonary cysts and spontaneous pneumothoraces have also been increasingly reported manifestations of Birt-Hogg-Dubé syndrome. (medscape.com)
Clinically1
Etiology1
  • Identify the etiology of renal cell cancer. (nih.gov)
Manifestations1
  • In addition to the associated cutaneous and pulmonary manifestations, individuals with the Birt-Hogg-Dubé (BHD) syndrome have an increased risk of developing kidney cancer, which is often bilateral and multifocal. (nih.gov)
Mutations3
  • 4. Birt-Hogg-Dubé gene mutations in human endometrial carcinomas with microsatellite instability. (nih.gov)
  • 11. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. (nih.gov)
  • 18. Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer. (nih.gov)
Gene1
  • 16. Therapeutic targeting the loss of the birt-hogg-dube suppressor gene. (nih.gov)
Colorectal1
  • They are of interest as putative precursors to colorectal adenomas and potential biomarkers for colorectal carcinoma. (nih.gov)
Autosomal1
  • The BHD syndrome, with an autosomal dominant inheritance pattern, has an estimated carrier frequency of 1:200 000. (bmj.com)
Cancer10
  • Renal cell carcinoma (see the image below) is the most common type of kidney cancer in adults. (medscape.com)
  • Genetic studies of the families at high risk for developing renal cancer led to the cloning of genes whose alteration results in tumor formation. (medscape.com)
  • Smoking increases the risk of developing renal cell carcinoma (RCC), the most common type of kidney cancer. (cancer.org)
  • People with a strong family history of renal cell cancer (without one of the known inherited conditions listed below) have a higher chance of developing this cancer. (cancer.org)
  • Renal cell carcinoma (RCC) is a kidney cancer that originates in the lining of the proximal convoluted tubule, a part of the very small tubes in the kidney that transport primary urine. (wikipedia.org)
  • These syndromes most commonly affect tissues which have not been invaded by the cancer. (wikipedia.org)
  • Explain the workup of a patient with renal cancer. (nih.gov)
  • Review interprofessional team strategies for improving care and outcomes in patients with renal cell cancer. (nih.gov)
  • Families at high risk for developing renal cancer were studied, which led to the cloning of genes. (nih.gov)
  • In the early stages, when the mass is small (less than 3 centimeters), renal cell cancer is typically asymptomatic. (nih.gov)
Pulmonary1
  • [ 20 ] Even with these pulmonary complications of Birt-Hogg-Dubé syndrome, most patients have preserved pulmonary function or mild obstructive pulmonary disease. (medscape.com)
Increasingly1
  • Increasingly, renal cell cancers are diagnosed at an earlier stage, and nephron-sparing surgery, thermal ablation, and surveillance are gaining acceptance as a treatment of choice for smaller tumors. (medscape.com)
Genetic1
  • Fibrofolliculoma are rare and all individuals with a biopsy-proven fibrofolliculoma should consider genetic testing for Birt Hogg Dubé syndrome. (sydneycancergenetics.com.au)
Chronic1
  • With this approach, the vast majority of patients will achieve a curative oncologic outcome and avoid the medical sequelae of chronic renal insufficiency that could otherwise result from total nephrectomy. (nih.gov)
Additionally1
  • Additionally, the occurrence of benign or malignant renal tumours and pneumothoraces is a known complication of this syndrome. (bmj.com)
Symptoms1
  • It is now known that this classic triad of symptoms only occurs in 10-15% of cases, and is usually indicative that the renal cell carcinoma (RCC) is in an advanced stage. (wikipedia.org)
Multiple1
  • She further required multiple percutaneous aspirations of symptomatic renal cysts. (bmj.com)
Abdominal2
  • We recommend abdominal imaging every 36 months in individuals without renal lesions at initial screening. (nih.gov)
  • Screening for renal tumours should start at age 20 with an abdominal MRI, followed by annual high quality renal ultrasound or MRI every 2 to 3 years. (sydneycancergenetics.com.au)
Occur1
Outcome1
  • Surgical resection remains the only known curative treatment for localized renal cell carcinoma, and it is also used improve outcome or for palliation in metastatic disease. (medscape.com)
Rare1
  • A case of phaeochromocytoma in a female patient in her 50s with phenotypical expressions for the rare Birt-Hogg-Dubé (BHD) syndrome is presented. (bmj.com)
Skin2
  • In 1977, Birt, Hogg, and Dubé reported small papular skin lesions distributed over the scalp, forehead, face, and neck in 15 of 70 members in a kindred study. (medscape.com)
  • Individuals with Birt Hogg Dubé syndrome almost always develop small skin coloured lumps on the face and chest (benign skin tumours called fibrofolliculoma ) which appear in the 20s. (sydneycancergenetics.com.au)
Families1
  • The Birt-Hogg-Dubé (BHD) Foundation, located in London, UK, approximates that there are about 600 families worldwide affected by this syndrome. (bmj.com)
Individuals1
Surgery1
  • Once renal tumors are identified, they should be followed with interval imaging studies until the largest tumor reaches 3 cm in maximal diameter, at which point nephron-sparing surgery should be ideally pursued. (nih.gov)
Features1
  • In addition, variable developmental problems and schizoid features are also associated with this syndrome. (nih.gov)