Rectal adenocarcinoma in patients with anorectal malformations: report of two cases and a review of the literature

AIM: Anorectal malformation (ARM) is a rare congenital disorder of the anus and rectum. In the last 30 years virtually all patients born with ARM have survived and surgeons from adult care may be called to deal with new and long-term sequelae, including tumors of the pulled-through anorectum. Two new cases of colorectal carcinoma in young adults born with ARM and a review of the literature is reported to emphasize the importance of a multidisciplinary follow-up. METHODS: A man and a woman, with previous history of ARM, presented at 34 years of age with symptoms of intestinal occlusion and a large pelvic mass. Both patients had no familial history of colorectal carcinoma. RESULTS: The patients underwent biopsies (mucinous rectal adenocarcinoma) and stadiation (T4N0M0). In one case the microsatellite instability showed a stable profile. Despite maximal treatments, including surgery, chemo- and radio-therapy, they both died a few years after diagnosis for progression of disease. CONCLUSION: Case studies are too limited to suggest guidelines for prevention and treatment of such complications, but the life-long follow-up is mandatory in the framework of a well-established network between pediatric and adult surgeons. The risk of tumor development in these patients should not be neglected and colleagues from adult care should be aware of the possibility this occurs in their practice.