Perianal Crohn’s disease and fistula-associated carcinoma: challenges in diagnosis

Dear Editor: Perianal manifestations are quite frequent in Crohn’s disease (CD): simple or complex fistulas, skin tags, haemorrhoids, ulcers, fissures and anal strictures may develop in association with active colorectal inflammation [1, 2]. Symptoms of perianal Crohn’s disease (PCD) vary in terms of severity but are usually recurrent and persistent; combined surgical and medical approach is the gold standard for therapy [1, 2]. Conversely, fistula-associated malignancies are very rare, but few cases among CD patients have been reported in literature; advanced stage at diagnosis and poor outcome are common features [3]. Detection of anorectal carcinoma arising on chronic complex PCD may be challenging, and delayed diagnosis could impair chances of radical treatment. Out of 344 CD-related operations conducted between January 2007 and June 2014 at a single tertiary referral institution, 83 procedures were performed for perianal disease on 60 patients. Four patients were found to have anorectal carcinoma associated with perianal fistula; clinical characteristics, diagnostic and treatment modalities for these patients are presented and discussed. Case 1 A 31-year-old female with a 13-year history of perianal CD and terminal ileitis underwent examination under anaesthesia (EUA) for transsphincteric fistula refractory to treatment. Multiple biopsies demonstrated mucinous anal adenocarcinoma. Abdominoperineal resection extended to the posterior vaginal wall, and coccyx, inguinal linfectomy and ileocecal resection were performed (p T4b N0). She received postoperative chemotherapy and steroids for recurrence of ileal CD. Four years after resection, a pelvic recurrence was detected and chemoradiotherapy started; the patient however died at 53 months from surgery due to disseminate disease. Case 2 A 45-year-old female was admitted for persistent rectovaginal fistula and active colitis. She was diagnosed with perianal CD 23 years before and had previous resection of terminal ileum and right colon. Sphincter-sparing proctocolectomy was performed. On histology, colloid adenocarcinoma of the anus associated with fistula was demonstrated (pT3 N0); she received chemoradiotherapy postoperatively. After 20 months, she developed a pelvic recurrence on the vaginal wall and underwent surgical excision; no signs of further recurrences were seen at 32month follow-up. Case 3 A 44-year-old male was diagnosed with perianal and ileocoecal CD at 21 and underwent ileocecal resection at that time. He was referred to our institution for recurrent abscesses and refractory perianal fistulas; although there was high suspicion for tumour degeneration on first clinical examination, office biopsies failed to demonstrate malignancy. EUAwith deeper biopsies showed mucinous adenocarcinoma of the Electronic supplementary material The online version of this article (doi:10.1007/s00384-015-2140-y) contains supplementary material, which is available to authorized users. A. Zefelippo (*) : S. Costa : E. Contessini-Avesani General and Emergency Surgery Unit, Ospedale Maggiore Policlinico, via F. Sforza 28, 20122 Milan, Italy e-mail: arianna.zefelippo@policlinico.mi.it