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array:24 [ "pii" => "S0210480609741117" "issn" => "02104806" "doi" => "10.1016/S0210-4806(09)74111-7" "estado" => "S300" "fechaPublicacion" => "2009-01-01" "aid" => "74111" "copyright" => "Asociación Española de Urología (AEU)" "copyrightAnyo" => "2009" "documento" => "article" "crossmark" => 0 "subdocumento" => "rev" "cita" => "Actas Urol Esp. 2009;33:127-33" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 2266 "formatos" => array:3 [ "EPUB" => 7 "HTML" => 1284 "PDF" => 975 ] ] "itemSiguiente" => array:18 [ "pii" => "S0210480609741129" "issn" => "02104806" "doi" => "10.1016/S0210-4806(09)74112-9" "estado" => "S300" "fechaPublicacion" => "2009-01-01" "aid" => "74112" "copyright" => "Asociación Española de Urología (AEU)" "documento" => "article" "crossmark" => 0 "subdocumento" => "fla" "cita" => "Actas Urol Esp. 2009;33:134-7" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 1802 "formatos" => array:3 [ "EPUB" => 5 "HTML" => 946 "PDF" => 851 ] ] "es" => array:10 [ "idiomaDefecto" => true "titulo" => "Dolor durante biopsia de próstata guiada por ultrasonografía transrectal: Comparación del uso o no de Xilocaína gel como anestésico local" "tienePdf" => array:2 [ 0 => "es" 1 => "en" ] "tieneTextoCompleto" => 0 "tieneResumen" => array:2 [ 0 => "es" 1 => "en" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "134" "paginaFinal" => "137" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Pain during transrectal ultrasound guided needle biopsy Of the prostate : comparison of the use or not of lidocaine Gel" ] ] "contieneResumen" => array:2 [ "es" => true "en" => true ] "contienePdf" => array:2 [ "es" => true "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Gilmer A. Díaz Pérez, Luis Meza Montoya, Carlos Morante Deza, Mariela Pow-Sang Godoy, Víctor Destefano Urrutia" "autores" => array:5 [ 0 => array:2 [ "nombre" => "Gilmer" "apellidos" => "A. 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Matveev Vsevolod, Hans Peter Schmid, Filliberto Zattoni" "autores" => array:8 [ 0 => array:1 [ "colaborador" => "EAU Guidelines on Prostate Cancer" ] 1 => array:2 [ "nombre" => "Axel" "apellidos" => "Heidenreich" ] 2 => array:2 [ "nombre" => "Gunna" "apellidos" => "Aus" ] 3 => array:2 [ "nombre" => "Michel" "apellidos" => "Bolla" ] 4 => array:2 [ "nombre" => "Steven" "apellidos" => "Joniau" ] 5 => array:2 [ "nombre" => "B." "apellidos" => "Matveev Vsevolod" ] 6 => array:2 [ "nombre" => "Hans Peter" "apellidos" => "Schmid" ] 7 => array:2 [ "nombre" => "Filliberto" "apellidos" => "Zattoni" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0210480609741105?idApp=UINPBA00004N" "url" => "/02104806/0000003300000002/v1_201304251922/S0210480609741105/v1_201304251922/es/main.assets" ] "es" => array:14 [ "idiomaDefecto" => true "titulo" => "Cáncer de riñón hereditario" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "127" "paginaFinal" => "133" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Julián Sanz-Ortega, Carlos Olivier, Pedro Pérez Segura, Isabel Galante Romo, Luis San José Mansó, Mamen Saez" "autores" => array:6 [ 0 => array:4 [ "nombre" => "Julián" "apellidos" => "Sanz-Ortega" "email" => array:1 [ 0 => "jsanzo.hcsc@salud.madrid.org" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0015" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Carlos" "apellidos" => "Olivier" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0015" ] ] ] 2 => array:3 [ "nombre" => "Pedro" "apellidos" => "Pérez Segura" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">**</span>" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0015" ] ] ] 3 => array:3 [ "nombre" => "Isabel" "apellidos" => "Galante Romo" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0015" ] ] ] 4 => array:3 [ "nombre" => "Luis" "apellidos" => "San José Mansó" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0015" ] ] ] 5 => array:3 [ "nombre" => "Mamen" "apellidos" => "Saez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Anatomía Patológica, Urología. Hospital Clínico San Carlos. Madrid, España Unidad Clínica del Cáncer Renal Hereditario (UCCRH) (Integrado en la Comisión multidisciplinar de Consejo Genético Hospital Clínico San Carlos)" "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Anatomía Patológica, Oncología. Hospital Clínico San Carlos. Madrid, España Unidad Clínica del Cáncer Renal Hereditario (UCCRH) (Integrado en la Comisión multidisciplinar de Consejo Genético Hospital Clínico San Carlos)" "etiqueta" => "<span class="elsevierStyleSup">**</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Anatomía Patológica, y Oncología. Hospital Clínico San Carlos. Madrid, España Unidad Clínica del Cáncer Renal Hereditario (UCCRH) (Integrado en la Comisión multidisciplinar de Consejo Genético Hospital Clínico San Carlos)" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "1" "correspondencia" => "Correspondencia autor: Dr. Julián Sanz-Ortega Servicio de Oncología Médica Hospital Clínico San Carlos Prof. Martín Lagos, s/n - 28040 Madrid Tel.: 913 303 822" ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Hereditary renal cancer" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2008-09-30" "fechaAceptado" => "2008-10-31" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec88838" "palabras" => array:3 [ 0 => "Cáncer hereditario" 1 => "Riñón" 2 => "Consejo genético" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec88837" "palabras" => array:5 [ 0 => "Renal cancer" 1 => "Von-Hippel-Lindau" 2 => "Germline mutations" 3 => "HLRCC" 4 => "Leiomyomas" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">El cáncer de riñón es la décima causa más común de muerte por cáncer. Esta revisión analiza las características de los síndromes hereditarios más frecuentes asociados a un subtipo histológico de tumor renal específico, su prevalencia y penetrancia, test genéticos disponibles y programas de cribado/detección precoz y tratamiento recomendados.</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">En el síndrome de Von Hippel-Lindau un 40% de los pacientes desarrollan carcinoma renal de células claras bilateral y multifocal. También son frecuentes el hemangioblastoma del SNC o retina, feocromocitomas y tumores del saco endolinfático. Se han descrito cuatro fenotipos clásicos de VHL en función de la mutación y un diferente riesgo de feocromocitoma o carcinoma de células renales. Se puede realizar test genético de diagnóstico de confirmación, diagnóstico prenatal o preimplantación.</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">El cáncer papilar renal hereditario tiene múltiples carcinomas papilares bilaterales de subtipo histológico 1. El gen asociado es el proto-oncogen c-met.</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">El síndrome de Birt-Hogg-Dubé por mutaciones en el gen FLCN combina múltiples tumores renales bilaterales de tipo oncocitoma, carcinoma cromófobo, tumor híbrido oncocítico y una minoría carcinoma de células claras renales. Se asocia a fibrofoliculomas cutáneos, quistes de pulmón y neumotórax espontáneo. Histológicamente, hay lesiones iniciales de oncocitosis o híbridos oncocíticos excepcionales fuera del síndrome hereditario.</p><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">La leiomiomatosis hereditaria y cáncer de células renales por mutaciones del gen fumarato hidratasa tiene en un 15% de los pacientes un agresivo carcinoma papilar tipo 2, en un 75% leiomiomas cutáneos múltiples y en 100% leiomiomas uterinos. En el estudio histopatológico se observan unos macronúcleolos eosinófilos característicos.</p><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">La Esclerosis tuberosa es uno de los síndromes hereditarios más frecuentes asociado a angiomiolipoma (70% de afectados), quistes renales, oncocitoma o carcinoma renal de células claras.</p>" ] "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Kidney cancer is the tenth most common cause of cancer death. There are a growing number of genes known to be associated with an increased risk of specific types of kidney cancer.</p><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">People with Von Hippel-Lindau syndrome have about a 40% risk of developing multiple bilateral clear cell kidney cancers. They can also develop retinal and brain hemangioblastoma, kidneys or pancreas cysts, pheochromocytoma and endolymphatic sac tumor. Four phenotypes with different renal cancer and pheocromocitoma risk have been described depending on the germline mutation.</p><p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Hereditary papillary renal cell carcinoma syndrome has type 1 papillary renal cell carcinomas associated with protooncogene c-MET germline mutations.</p><p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">Birt-Hogg-Dubé syndrome has FLCN gene mutations associated with fibrofolliculomas, lung cysts with a high risk for spontaneous pneumothorax, and a 15% to 30% risk of kidney cancer (most classified as chromophobe carcinoma, oncocytoma or oncocytic hybrid, but clear cell and papillary kidney cancers have also been reported). Histopathological findings such as oncocytosis and oncocytic hybrids are very unusual outside the syndrome.</p><p id="spar0055" class="elsevierStyleSimplePara elsevierViewall">Hereditary leiomyomatosis and renal cell cancer syndrome shows mutations of Fumarate hydratase gene and cutaneous leiomyomata in 76% of affected individuals, uterine leiomyomata in 100% of females, and unilateral, solitary, and aggressive papillary renal cancer in 10 to 16% of patients. A specific histopathological change is eosinophilic prominent nucleoli with a perinucleolar halo.</p><p id="spar0060" class="elsevierStyleSimplePara elsevierViewall">Tuberous sclerosis complex is one of the most prevalent (1/5.800) hereditary syndromes where renal disease is the second leading cause of death, associated with angiomyolipomas (70%), renal cysts, oncocytomas or clear cell cancer.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Referencias" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:45 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:1 [ "referenciaCompleta" => "Ries LAG, Melbert D, Krapcho M, Stinchcomb DG, Howlader N, Horner MJ, Mariotto A, Miller BA, Feuer EJ, Altekruse SF, Lewis DR, Clegg L, Eisner MP, Reichman M, Edwards BKSEER Cancer Statistics Review, 1975-2005, National Cancer Institute. 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