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Inicio Radiología (English Edition) Multiple and hereditary renal tumors: a review for radiologists
Journal Information
Vol. 66. Issue 2.
Pages 132-154 (March - April 2024)
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Vol. 66. Issue 2.
Pages 132-154 (March - April 2024)
Radiology through images
Multiple and hereditary renal tumors: a review for radiologists
Tumores renales múltiples y hereditarios. Revisión por y para radiólogos
M.Á. Corral de la Callea,
Corresponding author

Corresponding author.
, J. Encinas de la Iglesiab, G.C. Fernández Pérezc, A. Frainoa, M. Repollés Cobaledad
a Servicio de Radiodiagnóstico, Complejo Asistencial de Ávila, Ávila, Spain
b Servicio de Radiodiagnóstico, Complejo Asistencial de Salamanca, Salamanca, Spain
c Centro Radiológico Grupo Recoletas, Valladolid, Spain
d Servicio de Radiodiagnóstico, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain
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Tables (2)
Table 1. Principal hereditary syndromes associated with renal tumours, except syndromes associated specifically with Wilms’ tumours. All are inherited in an autosomal dominant pattern, except Lynch syndrome (autosomal recessive) and Xp11.2 translocation/TFE3 gene fusion syndrome (Linked to X).
Table 2. Principal hereditary syndromes associated with Wilms’ tumours.
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80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2–4% of "sporadic" multifocality and 5–8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended.

Relevant data for the radiologist in major RC hereditary syndromes are presented: von-Hippel-Lindau, Chromosome-3 translocation, BRCA-associated protein-1 mutation, RC associated with succinate dehydrogenase deficiency, PTEN, hereditary papillary RC, Papillary thyroid cancer- Papillary RC, Hereditary leiomyomatosis and RC, Birt-Hogg-Dubé, Tuberous sclerosis complex, Lynch, Xp11.2 translocation/TFE3 fusion, Sickle cell trait, DICER1 mutation, Hereditary hyperparathyroidism and jaw tumor, as well as the main syndromes of Wilms tumor predisposition.

The concept of "non-hereditary" familial RC and other malignant and benign entities that can present as multiple renal lesions are discussed.

Renal cell carcinoma
Multiple primary neoplasms
Hereditary renal cancer
Von Hippel-Lindau disease
Birt-Hogg-Dube syndrome
Tuberous sclerosis
Lynch syndrome

El 80% de los carcinomas renales (CR) se diagnostican incidentalmente por imagen. Se aceptan 2–4% de multifocalidad “esporádica” y 5–8% de síndromes hereditarios, probablemente con infraestimación. Multifocalidad, edad joven, historia familiar, datos sindrómicos y ciertas histologías hacen sospechar síndrome hereditario. Debe estudiarse individualmente cada tumor y multidisciplinarmente el paciente, con estrategias terapéuticas conservadoras de nefronas y abordaje diagnóstico radioprotector.

Se revisan los datos relevantes para el radiólogo en los síndromes de von Hippel-Lindau, Translocación de cromosoma-3, Mutación de proteína-1 asociada a BRCA, CR asociado a déficit en Succinato-deshidrogenasa, PTEN, CR papilar hereditario, Cáncer papilar tiroideo-CR papilar, Leiomiomatosis hereditaria y CR, Birt-Hogg-Dubé, Complejo esclerosis tuberosa, Lynch, Translocación Xp11.2/Fusión TFE3, Rasgo de células falciformes, Mutación DICER1, Hiperparatoridismo y tumor mandibular hereditario, así como los principales síndromes de predisposición a tumor de Wilms.

Se discuten el CR familiar “no hereditario” y otras entidades malignas y benignas que pueden presentarse como lesiones renales múltiples.

Palabras clave:
Carcinoma de células renales
Neoplasias primarias multiples
Cáncer renal hereditario
Enfermedad de von Hippel-Lindau
Síndrome de Birt-Hogg-Dubé
Esclerosis tuberosa
Síndrome de Lynch


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