Bladder endometriosis is rare, although the bladder is the urinary tract structure most often affected by this condition. The common clinical manifestations of bladder endometriosis include menouria and urethral and pelvic pain syndrome occurring cyclically. Imaging methods are not conclusive for the definitive diagnosis. Cystoscopy is the most useful diagnostic test with confirmation by histologic study. Treatment must be individualized according to the patient's age, desire for future pregnancies, the severity of the symptoms, the site affected, and whether other organs are involved. Two types of treatment are currently used as follows: medical-hormonal and surgical.
investigated using the Hpa II and Msp I restriction enzymes. In addition, a sequencing analysis of complete coding region of h MLH1 and h MSH2 genes was performed .
RESULTSMSI and promoter hypermethylation of h MLH1 were not detected. Interestingly, loss of heterozygosity (LOH) was common among patients with RCC, particularly in microsatellite D3S1611 (34.9%). Mutations were identified in eight patients: K618A and V716M in gene h MLH1 ; and I145V, G322D, and the novel mutation P349A, in gene h MSH2 . The mutations also appeared in healthy renal tissue and therefore, were considered as germline DNA sequence variations. There were G322D and K618A changes in > 1% of the healthy control subjects, suggesting that they are DNA polymorphisms.
CONCLUSIONSOur data show that loss of function of both h MLH1 and h MSH2 is not involved in sporadic RCC, either by promoter methylation or mutation in their exons. However, LOH indicated that chromosomal instability affecting large fragments of DNA was the main genetic alteration we detected associated with RCC.
This study provides strong evidence for the role of common CYP1B1 variants as risk factors for bladder cancer, which increases with occupational exposure.
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