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Particularités génétiques et épidémiologiques des tumeurs urothéliales de la voie excrétrice supérieure

Genetic and epidemiological features of upper tract urothelial carcinomas

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Oncologie

Résumé

Le butétait de décrire l’histoire naturelle et les particularités de la carcinogenèse des tumeurs de la voie excrétrice urinaire supérieure (TVES). Une revue de la littérature sur Medline a été réalisée en considérant l’ensemble des articles répertoriés jusqu’en 2014 et en utilisant différentes combinaisons des mots clés suivant: carcinome urothélial; clonalité; carcinogenèse; mutations; instabilité chromosomique; syndrome de Lynch; polymorphisme génétique; épidémiologie; facteurs de risque; tabac; acide aristolochique (AcA); uretère; bassinet. La carcinogenèse des TVES et des tumeurs de vessie présente d’importantes bases communes dont l’implication de la mutation du proto-oncogène FGFR3. Plusieurs facteurs de risque génétiques spécifiques aux TVES non établis dans les tumeurs de la vessie comme le syndrome de Lynch ou certains polymorphismes génétiques ont également été mis en évidence expliquant ainsi la susceptibilité de certains individus à développer ce type de tumeurs. L’incidence estimée des TVES est de 1,2 cas pour 100 000 habitants par an en Europe. L’incidence des tumeurs pyélocalicielles est stable depuis 30 ans, alors que la fréquence des localisations urétérales est en augmentation avec le temps. Les stades et grades avancés seraient plus fréquents au diagnostic. Celuici aurait lieu à un âge moyen plus tardif (> 70 ans). Le ratio homme/femme est de l’ordre de 2. Les principaux carcinogènes de l’urothélium restent le tabac et l’exposition professionnelle. Il existe des facteurs environnementaux spécifiques aux TVES. L’exposition à l’AcA (néphropathie des Balkans et herbes chinoises) est à l’origine d’une carcinogenèse spécifique du haut appareil urinaire.

Abstract

The aim of this article is to describe the natural history and peculiarities of carcinogenesis of upper tract urothelial carcinoma (UTUC). A systematic review of the scientific literature was performed on the Medline database (Pub- Med) using different combinations of the following key words: upper tract urothelial carcinoma, clonality, carcinogenesis, mutation, chromosomal instability, Lynch syndrome, and genetic polymorphism. Local development of UTUC is characterized by a highly prevalent multifocality that might be explained by the overlap of “field change” and “intra-luminal seeding and implantation” theories. UTUC and bladder tumors share common carcinogenesis mechanisms, such as mutations of FGFR3 and TP53, defining two distinct pathways of pathogenesis. The estimated UTUC incidence is 1.2 cases/100,000 inhabitants per year in Europe. The incidence of renal pelvis tumor has been stable for 30 years, while the frequency of ureteral locations has increased over time. Locally advanced stage and high grade are more frequent factors at the time of diagnosis. The median age for diagnosis is 70 years. Male-to-female ratio is nearly 2. Main carcinogenic factors are tobacco consumption and occupational exposure. There are specific risk factors for UTUC, such as Aristolochic acid (Balkan nephropathy and Chinese herbes nephropathy). Furthermore, specific genetic risk factors for UTUC includes Lynch syndrome, and different polymorphisms might explain an individual’s susceptibility for developing these tumors.

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Authors and Affiliations

  1. Service d’urologie de l’hôpital de la Pitié-Salpétrière, AP–HP, F-75013, Paris, France

    M. Rouprêt

  2. GRC5, Oncotype-Uro, institut universitaire de cancérologie, UPMC, université Paris-VI, F-75005, Paris, France

    M. Rouprêt

  3. Service d’urologie de l’hôpital privé de La Louvière, Générale de santé, Lille, F-59800, France

    P. Colin

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Rouprêt, M., Colin, P. Particularités génétiques et épidémiologiques des tumeurs urothéliales de la voie excrétrice supérieure. Oncologie 17, 184–190 (2015). https://doi.org/10.1007/s10269-015-2506-3

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  • DOI: https://doi.org/10.1007/s10269-015-2506-3

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