- 1Department of Urology, Hôpital Privé de La Louvière, Générale de Santé, Lille, France.
- 2Academic Department of Urology, Assitance Publique-Hopitaux de Paris, Hopital Pitié-Salpétrière, Paris, F-75013, France; ; UPMC Univ Paris 06, GRC5, ONCOTYPE-Uro, Institut Universitaire de Cancérologie, F-75005, Paris, France.
- 3Department of Urology, Medical University of Vienna, Vienna, Austria.
Abstract
The
purpose of the current review was to describe the clinical risk for
Lynch syndrome (LS) after exposure to aristolochic acid (AA) in cases of
upper urinary-tract urothelial carcinoma (UTUC). A systematic review of
the scientific literature was performed using the Medline database
(National Library of Medicine, PubMed) using the following keywords:
epidemiology, risk factor, AA, Balkan nephropathy (BNe), LS, hereditary
cancer, hereditary non-polyposis colorectal cancer (HNPCC), mismatch
repair genes, urothelial carcinomas, upper urinary tract, renal pelvis,
ureter, Amsterdam criteria, genetic counselling, mismatch repair genes,
genetic instability, microsatellite, and Bethesda guidelines. LS is a
specific risk for UTUC, which is the third most frequent cancer (in its
tumor spectrum) after colon and uterine lesions. Mutation of the MSH2
gene is the most commonly described cause of UTUC in LS. Diagnosis is
based on clinical suspicion and is guided by Bethesda and Amsterdam
criteria. It is secondarily confirmed by immunohistochemical analyses of
the tumor and a search for gene mutations. The presence of LS in
patients with UTUC is a favorable prognosis factor for survival during
follow-ups. AA is a specific environmental risk factor for UTUC and
tubulo-interstitial nephropathy. It has been involved in the development
of nephropathies in link with the Balkan disease and intake of Chinese herbal medicine. More broadly, the use of traditional plant medicines from the genus Aristolochia
has created worldwide public-health concerns. UTUCs share common risk
factors with other urothelial carcinomas such as tobacco or occupational
exposure. However, these tumors have also specific risk factors such as
AA exposure and LS that clinicians should be aware of because of their
clinical implication in further management and follow-up.
KEYWORDS:
Urothelial carcinoma; cancer; hereditary; renal pelvis; ureter
