Fistula-associated anal adenocarcinoma in Crohn's disease

Department of Surgery, University of Regensburg, Germany.
Inflammatory Bowel Diseases (Impact Factor: 4.46). 10/2010; 16(10):1643-8. DOI: 10.1002/ibd.21228
Source: PubMed


Adenocarcinoma arising from perianal fistulae in patients with Crohn's disease (CD) is rare. The literature consists mainly of case reports and small series making characterization of this clinical entity difficult. We present 6 patients with CD and fistula-associated anal adenocarcinoma (FAAA) and a systematic review of published series.
Retrospective charts were reviewed of 6 consecutive patients with FAAA in CD treated from 1992 through 2007. All available variables of our patients and of all available published cases were included for statistical analysis.
All patients treated at our institution had severe perianal CD at presentation. The average age at time of diagnosis was 45.5 years. All patients underwent abdominoperineal resection (APR) and 4 received chemoradiation. Four patients died with metastatic disease, 1 is alive with pelvic recurrence at 55 months, and 1 is alive without evidence of disease at 19 months follow-up. A total of 23 publications including 65 patients (37 female, mean age 53 years) with FAAA were reviewed in our systematic review. The average fistula duration was 14 years. Mean delay of cancer diagnosis was 11 months. APR was performed in 56 patients with an overall 3-year survival rate of 54%. Thirteen of 15 patients with node-positive tumors died with recurrent disease following surgery.
Adenocarcinoma arising from long-standing perianal CD fistulae is being increasingly reported. The outcome is poor following operative treatment, especially if perirectal lymph nodes are involved. Periodical cancer surveillance should be performed in all patients with long-standing perianal CD fistulae.

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    • "The development of carcinoma within a chronic perianal fistula is a rare complication of CD, first reported by Lightdale et al. in 1975 [2]. Iesalnieks et al. has reported 65 cases with anorectal cancer associated with perianal fistulae in patients with CD [3] with an estimated incidence of 0.3–0.7% [4]. "
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    ABSTRACT: Colorectal adenocarcinoma and Crohn's disease are known to be associated entities. However, a carcinoma arising within a chronic perianal fistulous tract in a patient with Crohn's disease is a rare complication. We present a case of a 40-year-old male patient with a long-standing perianal Crohn's disease who developed an anal mucinous adenocarcinoma within the fistulous tracts. Although, Crohn's disease and colorectal carcinoma association is well established, few cases have been reported where the cancer has originated within a perianal fistula. Constant mucosal regeneration occurring within a fistula seems to be the predominant pathogenetic mechanism, while immunosuppressants and anti-TNF agents may also contribute to the malignant transformation. Unfortunately, the lack of suspicion and the inadequate physical examination or colonoscopy due to exacerbation of the perianal symptoms could lead to delayed diagnosis; and thus, a poor prognosis. Albeit a rare complication, clinicians should maintain a high degree of vigilance about the possible development of adenocarcinoma in patients with long-standing perianal Crohn's disease. Thus, these patients should be kept under regular surveillance with examination under anaesthesia and biopsies or curettage of the tracts. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.
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    • "In these cases, the neoplastic transformation arises inside the longstanding fistula, probably due to the latter's chronic inflammatory nature [14]. We have found several cases in the literature in which a variety of different tumour types have developed inside a fistula once the latter was already formed, such as squamous cell carcinomas [15-17], basal cell carcinomas [18,19] and mucinous adenocarcinomas [17,20-22]. "
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    ABSTRACT: Melanoma of the anal region is a very uncommon disease, accounting for only 0.2-0.3% of all melanoma cases. Mutations of the BRAF gene are usually absent in melanomas occurring in this region as well as in other sun-protected regions. The development of a tumour in a longstanding perianal fistula is also extremely rare. More frequent is the case of a tumour presenting as a fistula, that is, the fistula being a consequence of the cancerous process, although we have found only two cases of fistula-generating melanomas reported in the literature. Here we report the case of a 38-year-old male who presented with a perianal fistula of four years of evolution. Histopathological examination of the fistulous tract confirmed the presence of malignant melanoma. Due to the small size and the central location of the melanoma inside the fistulous tract, we believe the melanoma reported here developed in the epithelium of the fistula once the latter was already formed. Resected sentinel lymph nodes were negative and the patient, after going through a wide local excision, remains disease-free nine years after diagnosis. DNA obtained from melanoma tissue was analysed by automated direct sequencing and the V600E (T1799A) mutation was detected in exon 15 of the BRAF gene. Since fistulae experience persistent inflammation, the fact that this melanoma harbours a BRAF mutation strengthens the view that oxidative stress caused by inflammatory processes plays an important role in the genesis of BRAF gene mutations.
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