Neoplasia in adult exstrophy patients

Abstract

Objective To document the incidence of neoplasia in a cohort of 103 patients born with classical exstrophy. Patients and methods 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. Results 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. Conclusions 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.

Differences in survival among patients with urachal and nonurachal adenocarcinomas of the bladder

“…Others have reported younger patients are at increased risk for urachal tumors relative to nonurachal primaries 3,12,13 and this may be due to the higher reported incidence in exstrophy patients. 12 The SEER database does not provide other diagnoses or birth defects, so we cannot determine what proportion of patients had exstrophy, although it is likely to be small. Management differed between the 2 groups: partial cystectomy was much more common for urachal tumors (66% vs. 16%, P < .001), whereas TURBT alone was less common in the urachal tumor group (18% vs. 55%, P < .001).…”

“…The demographics are different, with urachal tumors reported to occur in younger patients. 3,12,13 Anatomically, although primary bladder adenocarcinomas arise from any portion of the urothelium, urachal tumors originate from a remnant of the urogenital sinus that extends from the bladder to the umbilicus. 14 The urachus normally obliterates during fetal development and persists as a functionless, fibrous cord known as the median umbilical ligament.…”

Squamous Cell Carcinoma in Bladder Extrophy : A Case Report and Literature Review

“…Early cystectomy is not protective [8]. Currently, no guidelines for screening of bladder carcinoma in patients with history of exstrophy with cystectomy have been established [4].…”

Carcinoma epidermoide en extrofia de vejiga

“…Idiope Tomas efectuó una revisión de 106 casos de carcinoma originado en extrofia de la vejiga: Estos afectaron con más frecuencia en hombres (3:1) traduciendo una mayor incidencia de casos en el sexo masculino y en la 4ª a 6ª década de la vida 2 . Al contrario de lo que ocurre en una vejiga normal donde el adenocarcinoma corresponde apenas a 1 a 2% de los carcinomas vesicales, en una vejiga extrófica los adenocarcinomas comprenden una vasta mayoría (95%) seguido por el carcinoma epidermoide (apenas cinco casos descritos) y ocasionalmente rabdomiosarcomas y carcinomas indiferenciados [1][2][3][4] .…”