Neoplasia in adult exstrophy patients

To document the incidence of neoplasia in a cohort of 103 patients born with classical exstrophy.

The notes of patients born before 1964 with exstrophy were reviewed retrospectively. The patients were divided into two groups; 42 were thought to be at high risk of developing neoplasia because they had (at some time) had mixing of urine and faeces in a colorectal reservoir, whereas 61 had never been exposed to such a mixture and were thought to have a low risk of neoplasia.

At a minimum of 35 years of follow-up, complete data were available for 61 patients; 42 were lost to follow-up, of whom 14 were at high risk and 28 at low risk of neoplasia. In the high-risk group, there were three with colonic carcinoma (two of whom presented before 1980 and died), one with carcinoma in situ of the colon, 10 with benign colonic neoplasms and three with bladder cancer (two of whom died). In the low-risk group, there was one patient with bladder cancer (who died) and one with a clear cell carcinoma of the kidney. Three of the four patients with bladder cancer had undergone cystectomy before 5 years of age. Assuming that all the lost patients are alive and free of neoplasia, the risk of neoplasia in adults born with exstrophy is 17.5%. The main risk is in those who have been exposed to mixing of urine and faeces in a colorectal reservoir (38%). Even in low-risk patients the risk of malignant neoplasia is 3.3% at a median (range) age of 42 (40-44) years, which is 27 times higher than that of the age-matched general population.

Annual colonoscopy of patients deemed at high risk of colorectal neoplasia appears to be an effective screen for colorectal carcinoma, by identifying a premalignant stage, as there were no deaths after this was introduced. Despite bladder closure or diversion surgery within the first few years of life, patients with exstrophy have an almost 700-fold greater incidence of carcinoma of the bladder than the age-matched general population. Early cystectomy is not protective.