Hereditary Renal Tumor Syndromes: Update on Diagnosis and Management

Gaur, Sonia; Türkbey, Barış; Choyke, Peter L.

doi:10.1053/j.sult.2016.10.002

Cited by 20 publications

(15 citation statements)

References 76 publications

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“…When a germline FLCN mutation is detected and the diagnosis is confirmed, MRI is recommended every 3 years. If a renal tumor is detected, MRI or low-dose CT should be repeated annually to check the target organs for pathological signs [1]. The germline p.R477* FLCN mutation was first identified in a patient who had spontaneous pneumothorax as the first BHDS manifestation without objective signs to suspect renal neoplasia.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…The set includes monogenic disorders, such as Von Hippel-Lindau syndrome, Birt-Hogg-Dube syndrome (BHDS), hereditary leiomyomatosis and RCC, hereditary papillary RCC type 1, and BAP1 tumor predisposition syndrome. Direct DNA diagnosis and detection of a pathological mutation in a single candidate gene make it possible to ultimately diagnose the disorder, identify the target organs most susceptible to carcinogenesis based on known genotypephenotype correlations in some cases, and adjust the treatment and follow-up tactics depending on the higher lifetime risk of certain cancers and presence or absence of specific targets for targeted drugs [1,2]. BHDS (OMIM 135150) is a rare autosomal dominant cancer syndrome (1:200,000) with multiple fibrofolliculomas and, sometimes, trichodiscomas being the main manifestations in 90% of cases.…”

Section: Introductionmentioning

confidence: 99%

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Comprehensive Molecular Genetic Diagnostics of Birt-Hogg-Dube Syndrome in a Russian Patient with Renal Cancer and Lung Cysts: A Case Report

Mikhaylenko

Матвеев²,

Filippova³

et al. 2021

Case Rep Oncol

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We report a case of Birt-Hogg-Dube syndrome (BHDS), a rare hereditary syndrome, the main visible sign of which is the development of multiple skin fibrofolliculomas. In our case, there was a manifestation of BHDS consisting in the absence of fibrofolliculomas and presence of other characteristic features of this syndrome: lung cysts and renal cancer. The 26-year-old woman was admitted to a clinic for diagnosis and treatment of a neoplasm of the left kidney and had a history of renal cell cancer (RCC) of the right kidney and spontaneous pneumothorax. Multiple tumors of the left kidney and lung cysts were observed upon clinical and laboratory testing. Tumors of the left kidney were resected and diagnosed by a pathologist as chromophobe RCC. Sequencing of <i>FLCN</i> exons 4–14 from blood DNA revealed the heterozygous germline nonsense mutation c.1429C>T (p.R477*), confirming the diagnosis of BHDS. Several somatic variants were detected by tumor DNA sequencing using the Comprehensive Cancer Panel and Ion S5 platform. Medical-genetic counseling was conducted, and follow-up management was outlined. To our knowledge, this case report is the first comprehensive clinical and genetic examination of a patient with BHDS in Russia. The p.R477* mutation has been described by other authors in patients with fibrofolliculomas and lung cysts, but not in those with RCC, while RCC was the first manifestation of BHDS in our case. The case report may help geneticists, oncologists, and other specialists to better understand the clinical and genetic heterogeneity of BHDS in various populations.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Comprehensive Molecular Genetic Diagnostics of Birt-Hogg-Dube Syndrome in a Russian Patient with Renal Cancer and Lung Cysts: A Case Report

Mikhaylenko

Матвеев²,

Filippova³

et al. 2021

Case Rep Oncol

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“…The samples ID are between GSM350411 and GSM350479.Kidney Cancer Dataset (Dalgliesh et al, 2010): The GEO ID of chosen kidney cancer dataset is GSE17895. It focuses on Renal Cell Carcinoma which is also known as kidney cancer that originates in the lining of proximal convoluted tubule (small tubes in the kidney that transport urine) (Gaur et al, 2017). It consists of 138 cancer samples and 22 normal samples.…”

Section: Methodsmentioning

confidence: 99%

An enhanced topologically significant directed random walk in cancer classification using gene expression datasets

Seah

Kasim

Fudzee

et al. 2017

Saudi Journal of Biological Sciences

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Microarray technology has become one of the elementary tools for researchers to study the genome of organisms. As the complexity and heterogeneity of cancer is being increasingly appreciated through genomic analysis, cancerous classification is an emerging important trend. Significant directed random walk is proposed as one of the cancerous classification approach which have higher sensitivity of risk gene prediction and higher accuracy of cancer classification. In this paper, the methodology and material used for the experiment are presented. Tuning parameter selection method and weight as parameter are applied in proposed approach. Gene expression dataset is used as the input datasets while pathway dataset is used to build a directed graph, as reference datasets, to complete the bias process in random walk approach. In addition, we demonstrate that our approach can improve sensitive predictions with higher accuracy and biological meaningful classification result. Comparison result takes place between significant directed random walk and directed random walk to show the improvement in term of sensitivity of prediction and accuracy of cancer classification.

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“…We report that dermatologic findings, specifically facial fibrofolliculomas, are highly correlated with a positive genetic test result (OR (87.99)). Dermatologic skin lesions are prevalent in several hereditary RCC syndromes, including BHD (fibrofolliculomas), TSC (angiofibromas, shagreen patches) and HLRCC (cutaneous leiomyomata) 15 . Of interest, dermatologic findings are not listed as specific referral criteria within the ACGM/NSGC guidelines, despite their known association with hereditary RCC syndromes.…”

Section: Cuaj -Original Researchmentioning

confidence: 99%

Clinical predictors of a positive test result in patients undergoing genetic evaluation for a hereditary kidney cancer syndrome

Kokorovic

Thomas

Serrano-Lomelin

et al. 2019

CUAJ

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Introduction: Guidelines are available to assist providers in identifying patients with renal cell carcinoma (RCC) that may benefit from genetic counselling, however, the evidence for these recommendations lacks support from the literature and controversy remains as to who should be referred. We aimed to delineate risk factors associated with a positive genetic test in a real-life cohort of patients with RCC referred to a regional medical genetics unit for evaluation of a hereditary kidney cancer syndrome. Methods: Patients with a diagnosis of RCC referred to Maritime Medical Genetics Service (Nova Scotia, Canada) from 2006–2017 were reviewed using retrospective data. The primary outcome was identification of clinical features that were associated with a positive test result. Logistic regression models were used for analysis. Results: A total of 135 patients were referred to medical genetics for evaluation; 102 patients were evaluated, 75 underwent testing, and 74 were included in the final analysis. Five patients tested positive: three Birt Hogg Dube, one Cowden syndrome, and one Von Hippel Lindau. Presence of dermatological lesions (specifically fibrofolliculomas) and more than two high-risk features were the only predictors of a positive test result. Conclusions: The presence of dermatological lesions and more than two high-risk features are the only predictors of a positive test result in patients with a suspected hereditary kidney cancer syndrome. These findings are not reflected in current guidelines, and the clinical implementation of our results may improve the identification of high-risk patients for genetic counselling.

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Hereditary Renal Tumor Syndromes: Update on Diagnosis and Management

Cited by 20 publications

References 76 publications

Comprehensive Molecular Genetic Diagnostics of Birt-Hogg-Dube Syndrome in a Russian Patient with Renal Cancer and Lung Cysts: A Case Report

Comprehensive Molecular Genetic Diagnostics of Birt-Hogg-Dube Syndrome in a Russian Patient with Renal Cancer and Lung Cysts: A Case Report

An enhanced topologically significant directed random walk in cancer classification using gene expression datasets

Clinical predictors of a positive test result in patients undergoing genetic evaluation for a hereditary kidney cancer syndrome

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