Cáncer de riñón hereditario
Hereditary renal cancer
Julián Sanz-Ortegaa,1
, Carlos Olivier*,a, Pedro Pérez Segura**,a, Isabel Galante Romo*,a, Luis San José Mansó*,a, Mamen Saeza
Autor para correspondencia
jsanzo.hcsc@salud.madrid.org
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
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
* 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)
** 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)
a 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)
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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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| 2024 Octubre | 0 | 11 | 11 |
| 2024 Septiembre | 0 | 9 | 9 |
| 2024 Agosto | 0 | 8 | 8 |
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| 2024 Enero | 0 | 19 | 19 |
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| 2023 Agosto | 0 | 23 | 23 |
| 2023 Julio | 0 | 86 | 86 |
| 2023 Junio | 0 | 9 | 9 |
| 2023 Mayo | 0 | 2 | 2 |
| 2023 Abril | 0 | 6 | 6 |
| 2023 Marzo | 5 | 11 | 16 |
| 2023 Febrero | 0 | 1 | 1 |
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| 2022 Diciembre | 0 | 6 | 6 |
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| 2021 Noviembre | 0 | 6 | 6 |
| 2021 Octubre | 0 | 1 | 1 |
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| 2021 Agosto | 0 | 4 | 4 |
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| 2021 Junio | 0 | 4 | 4 |
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| 2021 Abril | 0 | 9 | 9 |
| 2021 Marzo | 0 | 3 | 3 |
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| 2021 Enero | 0 | 5 | 5 |
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| 2020 Octubre | 0 | 3 | 3 |
| 2020 Septiembre | 0 | 6 | 6 |
| 2020 Agosto | 0 | 12 | 12 |
| 2020 Julio | 0 | 3 | 3 |
| 2020 Junio | 0 | 1 | 1 |
| 2020 Mayo | 0 | 3 | 3 |
| 2020 Abril | 0 | 13 | 13 |
| 2020 Marzo | 0 | 8 | 8 |
| 2020 Febrero | 0 | 14 | 14 |
| 2020 Enero | 0 | 5 | 5 |
| 2019 Diciembre | 0 | 19 | 19 |
| 2019 Noviembre | 1 | 2 | 3 |
| 2019 Octubre | 0 | 3 | 3 |
| 2019 Septiembre | 0 | 5 | 5 |
| 2019 Agosto | 0 | 9 | 9 |
| 2019 Julio | 0 | 16 | 16 |
| 2019 Junio | 0 | 12 | 12 |
| 2019 Mayo | 0 | 63 | 63 |
| 2019 Abril | 0 | 38 | 38 |
| 2019 Marzo | 0 | 5 | 5 |
| 2019 Febrero | 0 | 15 | 15 |
| 2019 Enero | 0 | 4 | 4 |
| 2018 Diciembre | 0 | 13 | 13 |
| 2018 Noviembre | 0 | 11 | 11 |
| 2018 Octubre | 0 | 30 | 30 |
| 2018 Septiembre | 0 | 6 | 6 |
| 2018 Agosto | 0 | 11 | 11 |
| 2018 Julio | 0 | 4 | 4 |
| 2018 Junio | 0 | 1 | 1 |
| 2018 Abril | 0 | 2 | 2 |
| 2018 Marzo | 0 | 3 | 3 |
| 2018 Febrero | 6 | 3 | 9 |
| 2018 Enero | 12 | 2 | 14 |
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| 2017 Noviembre | 1 | 6 | 7 |
| 2017 Octubre | 3 | 8 | 11 |
| 2017 Septiembre | 13 | 10 | 23 |
| 2017 Agosto | 10 | 1 | 11 |
| 2017 Julio | 8 | 13 | 21 |
| 2017 Junio | 7 | 6 | 13 |
| 2017 Mayo | 15 | 10 | 25 |
| 2017 Abril | 8 | 13 | 21 |
| 2017 Marzo | 15 | 24 | 39 |
| 2017 Febrero | 11 | 13 | 24 |
| 2017 Enero | 8 | 3 | 11 |
| 2016 Diciembre | 30 | 26 | 56 |
| 2016 Noviembre | 29 | 21 | 50 |
| 2016 Octubre | 33 | 34 | 67 |
| 2016 Septiembre | 20 | 14 | 34 |
| 2016 Agosto | 11 | 8 | 19 |
| 2016 Julio | 21 | 3 | 24 |
| 2016 Junio | 22 | 28 | 50 |
| 2016 Mayo | 18 | 39 | 57 |
| 2016 Abril | 21 | 18 | 39 |
| 2016 Marzo | 18 | 33 | 51 |
| 2016 Febrero | 24 | 30 | 54 |
| 2016 Enero | 22 | 33 | 55 |
| 2015 Diciembre | 23 | 25 | 48 |
| 2015 Noviembre | 12 | 19 | 31 |
| 2015 Octubre | 25 | 23 | 48 |
| 2015 Septiembre | 17 | 13 | 30 |
| 2015 Agosto | 19 | 6 | 25 |
| 2015 Julio | 24 | 9 | 33 |
| 2015 Junio | 18 | 5 | 23 |
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| 2015 Abril | 12 | 19 | 31 |
| 2015 Marzo | 13 | 12 | 25 |
| 2015 Febrero | 7 | 8 | 15 |
| 2015 Enero | 24 | 5 | 29 |
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| 2014 Noviembre | 14 | 4 | 18 |
| 2014 Octubre | 19 | 11 | 30 |
| 2014 Septiembre | 25 | 6 | 31 |
| 2014 Agosto | 9 | 1 | 10 |
| 2014 Julio | 22 | 3 | 25 |
| 2014 Junio | 15 | 5 | 20 |
| 2014 Mayo | 12 | 7 | 19 |
| 2014 Abril | 4 | 5 | 9 |
| 2014 Marzo | 3 | 2 | 5 |
| 2014 Febrero | 6 | 7 | 13 |
| 2014 Enero | 5 | 3 | 8 |
| 2013 Diciembre | 11 | 1 | 12 |
| 2013 Noviembre | 5 | 14 | 19 |
| 2013 Octubre | 6 | 16 | 22 |
| 2013 Septiembre | 5 | 4 | 9 |
| 2013 Agosto | 1 | 12 | 13 |
| 2013 Julio | 4 | 3 | 7 |
| 2009 Febrero | 513 | 0 | 513 |
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