Adenocarcinoma Arising from Chronic Perianal
Crohn’s Disease: Case Report and
Review of the Literature
RICHARD SMITH, M.D.,* DAVID HICKS, M.D.,† PAUL I. TOMLJANOVICH, M.D.,‡ SHASHIKANT B. LELE, M.D.,§
ASHWANI RAJPUT, M.D.,*¶ KELLI BULLARD DUNN, M.D.*¶
From the Departments of *Surgical Oncology, †Pathology, ‡Head and Neck/Section of Plastic and
Reconstructive Surgery, and §Gynecologic Oncology, Roswell Park Cancer Institute, Buffalo, New York and
the ¶Department of Surgery, University of Buffalo, SUNY, Buffalo, New York
Perianal disease is a common manifestation of Crohn’s disease. Rarely malignancy arises in
perianal fistulas. The etiology of fistula related cancer remains a subject of debate. We present a
unique case of a perianal Crohn’s disease with adenomatous epithelialization of a fistula tract and
an associated mucinous adenocarcinoma. Our case demonstrates that mucinous adenocarcinoma
can arise in long standing perianal Crohn’s disease and may be associated with adenomatous
transformation of the epithelial lining of the fistula tract.
sociated with an underlying carcinoma.2–5The malig-
nancies arising in this setting are usually squamous
cell carcinomas, thought to arise from the squamous
epithelium of the fistula tract, or mucinous adenocar-
cinomas, thought to arise from anal glands.2, 3, 6In this
report, we present an unusual case of a mucinous ad-
enocarcinoma arising not from the anal glands, but
from the colonic epithelialized tract of a fistula.
ERIANAL FISTULAE ARE a common manifestation of
Crohn’s disease.1Rarely these fistulae can be as-
A 79-year-old woman with a 20-year history of
perianal Crohn’s disease presented with a new perianal
mass. The patient’s Crohn’s disease had been confined
to the perianal area and been treated with sulfasala-
zine, metronidazole, and infliximab in the past. As part
of her routine surveillance, a colonoscopy was per-
formed in September 2005, and showed diverticulosis,
but no evidence of inflammation in the colon or rec-
tum. She subsequently presented in January 2006 with
new onset hematochezia and progression of her peri-
anal disease to involve both labia as well as the mons
pubis. She was noted on examination to have a con-
cerning 3 cm perianal mass (arrow, Fig. 1) and exten-
sive perianal and perineal Crohn’s disease involving
the vulva and mons pubis (arrowheads, Fig. 1). Inci-
sional biopsy of the perianal mass revealed mucinous
adenocarcinoma. Biopsies of the mons and both labia
showed moderate acute and chronic inflammation, but
no evidence of malignancy. A CT scan of the abdomen
and pelvis showed no evidence of metastatic disease.
Given the findings of a perianal adenocarcinoma and
extensive perianal and vulvar Crohn’s disease, the pa-
tient underwent abdominoperineal resection with radi-
cal vulvectomy and reconstruction of perineum and
vulva with posterior thigh fasciocutaneous flaps. The
final pathologic specimen showed colonic epithelial-
ization of the fistulous tract with adenomatous trans-
formation (Fig. 2) and granuloma consistent with
Crohn’s disease (Fig. 2). In addition, a well differen-
tiated invasive mucinous adenocarcinoma (Fig. 3)
arising in the transformed mucosa of the fistula was
found. Interestingly, there was no evidence of malig-
nancy in the adjacent rectum or anus. The malignancy
of colonic origin seemed to arise from the fistulous
Although perianal involvement in Crohn’s disease
is common, disease isolated to the this region is pres-
ent in only about five per cent of patients.1Perianal
inflammation, fistulae, and abscess occur more com-
monly in the setting of colorectal or small bowel
Crohn’s disease, affecting 46 to 68 per cent and 5 to 27
per cent of patients respectively.7
Crohn’s disease is also associated with a 6-fold in-
crease in colorectal cancer when compared with the
general population.8The incidence of cancer arising in
Address correspondence and reprint requests to Kelli Bullard
Dunn, M.D., Elm & Carlton Streets, Buffalo, NY 14263. E-mail:
the setting of perianal disease is rare. In a series of
over 1000 patients over a 14-year period, a total of
seven patients were identified with carcinoma related
to a fistula (incidence approximately 0.7%).2
The risk of colorectal cancer in Crohn’s patients
increases with early age of onset and prolonged dis-
ease duration.9The average age at the time of diag-
nosis of fistula-related cancer in Crohn’s patients is
reported to be between 43 and 53 years of age.10–13
The average duration of disease before the diagnosis
of cancer in Crohn’s patients has been reported to be
15.5 years.2, 8The duration of disease before develop-
ment of a fistula-associated cancer is similar.2, 10–13
Our patient, although older than the average patient
with a fistula related carcinoma, had the typical long
duration of disease.
The cause of fistula-related cancer is not well un-
derstood, and etiology may be related to histologic
type. Traube et al.14have suggested that cancer arises
as a result of chronic stimulation of mucosal regen-
eration. Although this theory is consistent with squa-
mous carcinomas arising in chronic scars or ulcers, it
may not adequately explain the development of ad-
enocarcinoma. Church et al.15have suggested that fis-
tulae are secondary to the underlying carcinoma in the
anal canal or low rectum. Finally, Prioleau et al.3have
suggested that mucinous adenocarcinomas arise from
the anal ducts and the fistulous tract precedes the de-
velopment of the malignancy.
We have documented pathologically that mucinous
adenocarcinoma can arise in a fistula tract in associa-
tion with adenomatous mucosa. The colonic epitheli-
alization of the fistula tract may have a dysplastic
potential that gives rise to subsequent mucinous ad-
enocarcinoma in some Crohn’s patients. A limited
number of reports have documented a mucinous ad-
enocarcinoma arising in a fistulous tract without an
associated low lying rectal carcinoma.16–18It has been
suggested that these adenocarcinomas without associ-
ated intestinal involvement arise from the anal
glands.17We believe that this is the first report of an
adenocarcinoma arising within adenomatous colonic
epithelium of a fistula in the absence of an underlying
intestinal malignancy. The presence of adenomatous
change in the fistula tract suggests that this tissue may
harbor a risk of malignant transformation similar to the
risk seen in longstanding Crohn’s disease of the intes-
Mucinous adenocarcinoma can arise in long stand-
ing perianal Crohn’s disease. In this case, the malig-
nant change seemed to be associated with adenoma-
tous transformation of the epithelial lining of the
the setting of extensive perianal Crohn’s disease (arrowheads).
Adenocarcinoma (arrow) seen inferior to right labia in
with adenomatous epithelium. Granulomas consistent with
Crohn’s disease also demonstrated (arrows) (4× magnification).
Hematoxylin-and-eosin stain demonstrating fistula
mucinous adenocarcinoma in the adenomatous mucosa (10× mag-
Hematoxylin-and-eosin stain demonstrating invasive
60THE AMERICAN SURGEONJanuary 2008 Vol. 74
REFERENCES Download full-text
1. Lockhart-Mummery HE. Symposium. Crohn’s disease: Anal
lesions. Dis Colon Rectum 1975;18:200–2.
2. Ky A, Sohn N, Weinstein MA, Korelitz BI. Carcinoma aris-
ing in anorectal fistulas of Crohn’s disease. Dis Colon Rectum
3. Prioleau PG, Allen MS Jr, Roberts T. Perianal mucinous
adenocarcinoma. Cancer 1977;39:1295–9.
4. Onerheim RM. A case of perianal mucinous adenocarcinoma
arising in a fistula-in-ano. A clue to the early pathologic diagnosis.
Am J Clin Pathol 1988;89:809–12.
5. Chaikhouni A, Regueyra FI, Stevens JR. Adenocarcinoma in
perineal fistulas of Crohn’s disease. Dis Colon Rectum 1981;24:
6. Nielsen OV, Koch F. Carcinomas of the anorectal region of
extramucosal origin with special reference to the anal ducts. Acta
Chir Scand 1973;139:299–305.
7. Beck DE, Wexner SD. Fundamentals of Anorectal Surgery,
2nd Ed. Philadelphia: W.B. Saunders, 1998, p 557.
8. Korelitz BI. Carcinoma of the intestinal tract in Crohn’s dis-
ease: Results of a survey conducted by the National Foundation for
Ileitis and colitis. Am J Gastroenterol 1983;78:44–6.
9. Weedon DD, Shorter RG, Ilstrup DM, et al. Crohn’s disease
and cancer. N Engl J Med 1973;289:1099–103.
10. Ball CS, Wujanto R, Haboubi NY, Schofield PF. Carci-
noma in anal Crohn’s disease: Discussion paper. J R Soc Med
11. Connell WR, Sheffield JP, Kamm MA, et al. Lower gas-
trointestinal malignancy in Crohn’s disease. Gut 1994;35:347–52.
12. Kyle J, Ewen SW. Two types of colorectal carcinoma in
Crohn’s disease. Ann R Coll Surg Engl 1992;74:387–90.
13. Slater G, Greenstein A, Aufses AH Jr. Anal carcinoma in
patients with Crohn’s disease. Ann Surg 1984;199:348–50.
14. Traube J, Simpson S, Riddell RH, et al. Crohn’s disease and
adenocarcinoma of the bowel. Dig Dis Sci 1980;25:939–44.
15. Church JM, Weakley FL, Fazio VW, et al. The relationship
between fistulas in Crohn’s disease and associated carcinoma. Re-
port of four cases and review of the literature. Dis Colon Rectum
16. Buchmann P, Allan RN, Thompson H, Alexander-Williams
J. Carcinoma in a rectovaginal fistula in a patient with Crohn’s
disease. Am J Surg 1980;140:462–3.
17. Wong NA, Shirazi T, Hamer-Hodges DW, et al. Adenocar-
cinoma arising within a Crohn’s-related anorectal fistula: A form
of anal gland carcinoma? Histopathology 2002;40:302–4.
18. Moore-Maxwell CA, Robboy SJ. Mucinous adenocarci-
noma arising in rectovaginal fistulas associated with Crohn’s dis-
ease. Gynecol Oncol 2004;93:266–8.
No. 1ADENOCARCINOMA FROM CROHN’S DISEASE
Smith et al.