Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities

Renal Cell Cancer (RCC) is a heterogeneous disease that is characterized by distinct pathological phenotypes due to the differences in genetic alterations and signaling pathways affected (1). Bilateral renal tumors are often thought to be familial, however, they are only found in 14% of RCC cases an...

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Autores:
Cifuentes Cardona, Laura Fernanda
Martínez, Carlos Humberto
García Perdomo, Herney Andrés
Tipo de recurso:
Article of journal
Fecha de publicación:
2020
Institución:
Universidad Cooperativa de Colombia
Repositorio:
Repositorio UCC
Idioma:
OAI Identifier:
oai:repository.ucc.edu.co:20.500.12494/32803
Acceso en línea:
https://doi.org/10.1590/s1677-5538.ibju.2019.0015
https://hdl.handle.net/20.500.12494/32803
Palabra clave:
carcinoma renal
variantes genéticas
significancia clínica
renal cell carcinoma
genetic variant
clinical significance
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openAccess
License
Atribución – No comercial – Sin Derivar
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oai_identifier_str oai:repository.ucc.edu.co:20.500.12494/32803
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network_name_str Repositorio UCC
repository_id_str
dc.title.spa.fl_str_mv Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities
title Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities
spellingShingle Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities
carcinoma renal
variantes genéticas
significancia clínica
renal cell carcinoma
genetic variant
clinical significance
title_short Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities
title_full Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities
title_fullStr Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities
title_full_unstemmed Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities
title_sort Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities
dc.creator.fl_str_mv Cifuentes Cardona, Laura Fernanda
Martínez, Carlos Humberto
García Perdomo, Herney Andrés
dc.contributor.author.none.fl_str_mv Cifuentes Cardona, Laura Fernanda
Martínez, Carlos Humberto
García Perdomo, Herney Andrés
dc.subject.spa.fl_str_mv carcinoma renal
variantes genéticas
significancia clínica
topic carcinoma renal
variantes genéticas
significancia clínica
renal cell carcinoma
genetic variant
clinical significance
dc.subject.other.spa.fl_str_mv renal cell carcinoma
genetic variant
clinical significance
description Renal Cell Cancer (RCC) is a heterogeneous disease that is characterized by distinct pathological phenotypes due to the differences in genetic alterations and signaling pathways affected (1). Bilateral renal tumors are often thought to be familial, however, they are only found in 14% of RCC cases and 4% of von Hippel-Lindau disease (VHL) cases. Therefore, most people with bilateral kidney tumors might have sporadic tumors caused by somatic mutations (2). These figures suggest that a deep genomic study is fundamental for understanding the cause of this disease. The objective of this report was to describe a clinical case of a patient with bilateral kidney tumors of different subtypes, and how the genetic abnormalities found in this patient relate to the clinical phenotype.
publishDate 2020
dc.date.issued.none.fl_str_mv 2020-03
dc.date.accessioned.none.fl_str_mv 2021-01-25T13:41:08Z
dc.date.available.none.fl_str_mv 2021-01-25T13:41:08Z
dc.type.none.fl_str_mv Artículo
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dc.identifier.bibliographicCitation.spa.fl_str_mv Cifuentes-C, L., Martínez, C. H., & García-Perdomo, H. A. (2020). Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities. International braz j urol, 46(2), 287-293.
identifier_str_mv 1677-5538; 1677-6119
Cifuentes-C, L., Martínez, C. H., & García-Perdomo, H. A. (2020). Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities. International braz j urol, 46(2), 287-293.
url https://doi.org/10.1590/s1677-5538.ibju.2019.0015
https://hdl.handle.net/20.500.12494/32803
dc.relation.isversionof.spa.fl_str_mv https://www.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382020000200287&tlng=en
dc.relation.ispartofjournal.spa.fl_str_mv International Braz J Urol
dc.relation.references.spa.fl_str_mv Wiklund F, Tretli S, Choueiri TK, Signoretti S, Fall K, Adami HO. Risk of bilateral renal cell cancer. J Clin Oncol. 2009;27:3737-41.
Wiklund F, Tretli S, Choueiri TK, Signoretti S, Fall K, Adami HO. Risk of bilateral renal cell cancer. J Clin Oncol. 2009;27:3737-41.
Mikhail MA, Ng J, Mathew J, Koshy Z. Von Hippel Lindau disease: keep it in the family. BMJ Case Rep. 2012;2012.
Cingoz S, van der Luijt RB, Kurt E, Apaydin M, Akkol I, Ozgen MH. A novel missense mutation (N78D) in a family with von Hippel-Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts. Fam Cancer. 2013;12:111-7.
Verine J, Pluvinage A, Bousquet G, Lehmann-Che J, de Bazelaire C, Soufir N, et al. Hereditary renal cancer syndromes: an update of a systematic review. Eur Urol. 2010;58:701-10.
Lehtonen HJ. Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. Fam Cancer. 2011;10:397-411.
López V, Jordá E, Monteagudo C. [Birt-Hogg-Dubé syndrome: an update]. Actas Dermosifiliogr. 2012;103:198-206.
Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet. 2008;45:321-31.
Nishii T, Tanabe M, Tanaka R, Matsuzawa T, Okudela K, Nozawa A, et al. Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of BirtHogg-Dubé syndrome. Pathol Int. 2013;63:45-55.
Théry JC, Krieger S, Gaildrat P, Révillion F, Buisine MP, Killian A, et al. Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. Eur J Hum Genet. 2011;19:1052-8.
Riazalhosseini Y, Lathrop M. Precision medicine from the renal cancer genome. Nat Rev Nephrol. 2016;12:655-66.
Ferlay J, Soerjomataram I, Dikshit R, Eser S, Mathers C, Rebelo M, et al. Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer. 2015;136:E359-86.
Shuch B, Amin A, Armstrong AJ, Eble JN, Ficarra V, LopezBeltran A, et al. Understanding pathologic variants of renal cell carcinoma: distilling therapeutic opportunities from biologic complexity. Eur Urol. 2015;67:85-97.
Linehan WM. Genetic basis of bilateral renal cancer: implications for evaluation and management. J Clin Oncol. 2009;27:3731-3.
Moore LE, Nickerson ML, Brennan P, Toro JR, Jaeger E, Rinsky J, et al. Von Hippel-Lindau (VHL) inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factors. PLoS Genet. 2011;7:e1002312.
Banks RE, Tirukonda P, Taylor C, Hornigold N, Astuti D, Cohen D, et al. Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Cancer Res. 2006;66:2000-11.
Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, et al. Renal tumors in the Birt-Hogg-Dubé syndrome. Am J Surg Pathol. 2002;26:1542-52.
da Silva NF, Gentle D, Hesson LB, Morton DG, Latif F, Maher ER. Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer. J Med Genet. 2003;40:820-4.
Bartram MP, Mishra T, Reintjes N, Fabretti F, Gharbi H, Adam AC, et al. Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. BMC Med Genet. 2017;18:53.
Zhu M, Wen X, Liu X, Wang Y, Liang C, Tu J. Association between 8q24 rs6983267 polymorphism and cancer susceptibility: a meta-analysis involving 170,737 subjects. Oncotarget. 2017;8:57421-39.
Wokolorczyk D, Gliniewicz B, Sikorski A, Zlowocka E, Masojc B, Debniak T, et al. A range of cancers is associated with the rs6983267 marker on chromosome 8. Cancer Res. 2008;68:9982-6.
dc.rights.license.none.fl_str_mv Atribución – No comercial – Sin Derivar
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spelling Cifuentes Cardona, Laura FernandaMartínez, Carlos HumbertoGarcía Perdomo, Herney Andrés46 (2)2021-01-25T13:41:08Z2021-01-25T13:41:08Z2020-031677-5538; 1677-6119https://doi.org/10.1590/s1677-5538.ibju.2019.0015https://hdl.handle.net/20.500.12494/32803Cifuentes-C, L., Martínez, C. H., & García-Perdomo, H. A. (2020). Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities. International braz j urol, 46(2), 287-293.Renal Cell Cancer (RCC) is a heterogeneous disease that is characterized by distinct pathological phenotypes due to the differences in genetic alterations and signaling pathways affected (1). Bilateral renal tumors are often thought to be familial, however, they are only found in 14% of RCC cases and 4% of von Hippel-Lindau disease (VHL) cases. Therefore, most people with bilateral kidney tumors might have sporadic tumors caused by somatic mutations (2). These figures suggest that a deep genomic study is fundamental for understanding the cause of this disease. The objective of this report was to describe a clinical case of a patient with bilateral kidney tumors of different subtypes, and how the genetic abnormalities found in this patient relate to the clinical phenotype.https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=00002608190000-0001-7013-1952https://scienti.minciencias.gov.co/gruplac/jsp/visualiza/visualizagr.jsp?nro=00000000002911laura.cifuentesc@campusucc.edu.colauracifuentes@gmail.comhttps://scholar.google.com/citations?user=MKqJTTAAAAAJ&hl=es&oi=sra287-293Universidad Cooperativa de Colombia, Facultad de Ciencias de la Salud, Odontología, PastoOdontologíaPastohttps://www.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382020000200287&tlng=enInternational Braz J UrolWiklund F, Tretli S, Choueiri TK, Signoretti S, Fall K, Adami HO. Risk of bilateral renal cell cancer. J Clin Oncol. 2009;27:3737-41.Wiklund F, Tretli S, Choueiri TK, Signoretti S, Fall K, Adami HO. Risk of bilateral renal cell cancer. J Clin Oncol. 2009;27:3737-41.Mikhail MA, Ng J, Mathew J, Koshy Z. Von Hippel Lindau disease: keep it in the family. BMJ Case Rep. 2012;2012.Cingoz S, van der Luijt RB, Kurt E, Apaydin M, Akkol I, Ozgen MH. A novel missense mutation (N78D) in a family with von Hippel-Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts. Fam Cancer. 2013;12:111-7.Verine J, Pluvinage A, Bousquet G, Lehmann-Che J, de Bazelaire C, Soufir N, et al. Hereditary renal cancer syndromes: an update of a systematic review. Eur Urol. 2010;58:701-10.Lehtonen HJ. Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. Fam Cancer. 2011;10:397-411.López V, Jordá E, Monteagudo C. [Birt-Hogg-Dubé syndrome: an update]. Actas Dermosifiliogr. 2012;103:198-206.Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet. 2008;45:321-31.Nishii T, Tanabe M, Tanaka R, Matsuzawa T, Okudela K, Nozawa A, et al. Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of BirtHogg-Dubé syndrome. Pathol Int. 2013;63:45-55.Théry JC, Krieger S, Gaildrat P, Révillion F, Buisine MP, Killian A, et al. Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. Eur J Hum Genet. 2011;19:1052-8.Riazalhosseini Y, Lathrop M. Precision medicine from the renal cancer genome. Nat Rev Nephrol. 2016;12:655-66.Ferlay J, Soerjomataram I, Dikshit R, Eser S, Mathers C, Rebelo M, et al. Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer. 2015;136:E359-86.Shuch B, Amin A, Armstrong AJ, Eble JN, Ficarra V, LopezBeltran A, et al. Understanding pathologic variants of renal cell carcinoma: distilling therapeutic opportunities from biologic complexity. Eur Urol. 2015;67:85-97.Linehan WM. Genetic basis of bilateral renal cancer: implications for evaluation and management. J Clin Oncol. 2009;27:3731-3.Moore LE, Nickerson ML, Brennan P, Toro JR, Jaeger E, Rinsky J, et al. Von Hippel-Lindau (VHL) inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factors. PLoS Genet. 2011;7:e1002312.Banks RE, Tirukonda P, Taylor C, Hornigold N, Astuti D, Cohen D, et al. Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Cancer Res. 2006;66:2000-11.Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, et al. Renal tumors in the Birt-Hogg-Dubé syndrome. Am J Surg Pathol. 2002;26:1542-52.da Silva NF, Gentle D, Hesson LB, Morton DG, Latif F, Maher ER. Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer. J Med Genet. 2003;40:820-4.Bartram MP, Mishra T, Reintjes N, Fabretti F, Gharbi H, Adam AC, et al. Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. BMC Med Genet. 2017;18:53.Zhu M, Wen X, Liu X, Wang Y, Liang C, Tu J. Association between 8q24 rs6983267 polymorphism and cancer susceptibility: a meta-analysis involving 170,737 subjects. Oncotarget. 2017;8:57421-39.Wokolorczyk D, Gliniewicz B, Sikorski A, Zlowocka E, Masojc B, Debniak T, et al. A range of cancers is associated with the rs6983267 marker on chromosome 8. Cancer Res. 2008;68:9982-6.carcinoma renalvariantes genéticassignificancia clínicarenal cell carcinomagenetic variantclinical significanceSynchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalitiesArtículohttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionAtribución – No comercial – Sin Derivarinfo:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2PublicationORIGINAL20200201_Cifuentes-C_287_293-Artículo-PUBLICADO.pdf20200201_Cifuentes-C_287_293-Artículo-PUBLICADO.pdfArtículoapplication/pdf620734https://repository.ucc.edu.co/bitstreams/c50607e9-61db-401c-b02b-45399803b67f/downloadbcca64547b7bcb0528ff9f8b10a5a411MD51LICENSElicense.txtlicense.txttext/plain; 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