Presacral Neuroendocrine Carcinoma

Developed in a Tailgut Cyst

Report of a Case
Najat Mourra, M.D.,* Scott Caplin, M.D.,† Rolland Parc, M.D.,† Jean-François Flejou, M.D.*
From the Departments of *Pathology and †Surgery, Hôpital Saint-Antoine, AP-HP, Paris, France

We report a case of retrorectal neuroendocrine carcinoma At surgery, using the Kraske approach, a nodule of
in a 68-year-old male. This malignant tumor was associated approximately 1-cm diameter was identified in the
with cystic structures with a variety of epithelial linings,
including squamous, ciliated, columnar, and transitional, retrorectal space. The tumor extended superiorly to-
consistent with a tailgut cyst. To the best of our knowledge ward the sacrum, necessitating excision of the body of
this is only the second such tumor reported in the literature. S-5. The tumor was adherent to the rectum without
[Key words: Tailgut cyst; Malignant transformation; Neu-
roendocrine carcinoma] invasion of the rectal wall. Frozen section revealed an
Mourra N, Caplin S, Parc R, Flejou J-F. Presacral neuroen-
undifferentiated malignant lesion. Definitive histology
docrine carcinoma developed in a tailgut cyst: report of a is discussed below. The patient received no further
case. Dis Colon Rectum 2003;46:411–413. therapy and remained asymptomatic one year after
the operation.

T ailgut cysts are rare congenital presacral lesions

identified in all age groups. They represent a
persistence of embryologic remnants of the postanal
Pathologic Findings
Macroscopic examination showed a firm, 1.2-cm
gut.1
nodule enclosed within a 2-cm x 2-cm piece of fi-
Malignancy in tailgut cysts is extremely rare, the
brous tissue with S-5 attached. Microscopically, the
majority being adenocarcinomas and carcinoid tu-
nodule was composed of multiple solid nests of uni-
mors.1–3 We report a case of neuroendocrine carci-
noma associated with a tailgut cyst, the second report form cells with a rich capillary network and a mod-
in the literature.4 erate amount of necrosis, without trabecular pattern
or glandular structures. Tumor cells were round with
granular eosinophilic cytoplasm and eccentric, uni-
REPORT OF A CASE formly sized nuclei with speckled chromatin and in-
conspicuous nucleoli (Fig. 1).
A 68-year-old male presented with a three-year Tumor cells showed immunoreactivity for the neu-
history of anal pain. There was no history of altered roendocrine markers (neuron specific enolase, chro-
bowel habits, rectal bleeding, or urinary symptoms. mogranin A, and synaptophysin), and were immuno-
During the previous year the pain had increased in reactive for cytokeratin and epithelial membrane
severity and had been associated with a mucous dis- antigen. Immunostains for prostate specific antigen
charge. Twenty years previously he had undergone and CD45 were negative. The tumor was developed
formal hemorrhoidectomy. There was no other signif-
in the wall of a cystic structure with areas of squa-
icant past medical history.
mous, ciliated, columnar, and transitional epithelial
General physical examination was unremarkable.
lining consistent with a tailgut cyst (Fig. 2).
Digital rectal examination revealed a firm tender le-
The surrounding tissue consisted of fibrous and
sion in the right retrorectal space 2 cm above the anal
adipose tissue with some disorganized smooth mus-
canal. Perianal examination was normal. The rectal
cle bundles and a cystic structure lined by squamous
mucosa was normal at sigmoidoscopy. CT scan of the
epithelium. No features suggestive of teratoma were
abdomen and pelvis demonstrated a solitary 1.7-cm
noted. There was no evidence of invasion of the
retrorectal tumor.
carcinoma into the surrounding tissues nor the sa-
crum. A diagnosis of well-differentiated neuroendo-
Address reprint requests to Dr. Mourra: Department of Pathology,
Hôpital Saint-Antoine, 184 rue du faubourg St-Antoine, 75012 Paris, crine carcinoma associated with a tailgut cyst was
France. made based on the anatomic localization, histologic
morphology, and immunohistochemical profile.
411
412 MOURRA ET AL Dis Colon Rectum, March 2003

onstrates a retrorectal cystic mass, whereas transrectal

ultrasonography may be valuable in differentiating
tumor compression of the rectal wall from tumor
invasion.6 Transrectal or presacral needle biopsy is
only indicated in patients considered high risk for
surgery. A preoperative biopsy may fail to confirm the
diagnosis of malignancy and may carry significant
hazards such as spillage of malignant cells into the
peritoneal cavity.2,6
Simple cyst excision or drainage leads to recurrence
and possible infection. The treatment of choice is
complete excision of the lesion, with resection of the
Figure 1. High-power view of a well-differentiated neu- coccyx and a surrounding margin of grossly normal
roendocrine carcinoma. Solid nests of uniform cells with tissue.1,6
eosinophilic cytoplasm and eccentric, uniformly sized nu- Microscopically, the cyst is lined by a wide range of
clei with speckled chromatin and inconspicuous nucleo-
epithelial cells commonly found in the adult and fetal
lus are seen. (Hematoxylin and eosin; ⫻200)
gastrointestinal tract, including transitional, stratified
columnar, ciliated columnar, and squamous epithelia.
Smooth muscle is always present in the vicinity of the
cyst.1
Malignant transformation of the epithelial compo-
nents of a tailgut cyst has rarely been reported. In
their review of the literature, Prasad et al.4 identified
ten cases of malignancy in the literature, including six
adenocarcinomas and four carcinoids and reported
five further cases, one of which was a neuroendocrine
carcinoma. The prognosis of these malignant tumors
depends on performance of complete resection and,
especially, on tumor histology, with a much better
prognosis for endocrine tumors when compared with
Figure 2. Tailgut cyst with squamous lining cells (upper adenocarcinomas.6
left). Tumor necrosis (lower right). (Hematoxylin and In common with the previously reported cases, the
eosin; ⫻50) tailgut lesion in the case described here was separate
from the overlying rectal mucosa, and no other le-
sions were identified in the pelvis, abdomen, or per-
DISCUSSION
ineum. The presence of cystic structures adjacent to
Tailgut cysts are rare congenital lesions that occur the tailgut cyst with a heterogeneous epithelial lining
in the retrorectal space and are thought to arise from is suggestive of an origin of the carcinoma from the
postanal primitive gut.5 They are more commonly cystic remnants. This is in keeping with the hypothe-
reported in middle-aged females, but may present at sis advanced by Prasad that some presacral “carci-
any age including infancy.1,2,4 noid-like” tumors reported in the literature may de-
The clinical presentation is frequently nonspecific velop from neuroendocrine cells present in the
and related to a mass effect such as rectal fullness or glandular epithelium of tailgut cysts and carry the
urinary frequency.6 An infected tailgut cyst may be same malignant potential as other hindgut carci-
misdiagnosed as a pilonidal cyst, an anorectal fistula, noids.3,4
or a recurrent rectal abscess.4 Many patients have Complete excision of such cysts with a margin of
previously undergone surgical procedures in the ano- normal tissue followed by meticulous sectioning and
rectal region for these symptoms.1 Because of the examination of the specimen are recommended. The
location, a tailgut cyst can almost always be palpated exact nature of the lesion can then be established and
on digital rectal examination.1 CT scan clearly dem- any focal areas of malignant transformation identified.
Vol. 46, No. 3 NEUROENDOCRINE CARCINOMA AND TAILGUT CYST 413

REFERENCES 4. Prasad AR, Ami MB, Randolph TL, Lee CS, Ma CK.
Retrorectal cystic hamartoma. Report of 5 cases with
1. Hjermstad BM, Helwig EB. Tailgut cysts. Report of 53
malignancy arising in 2. Arch Pathol Lab Med 2000;
cases. Am J Clin Pathol 1988;89:139 – 47.
2. Schwarz RE, Lyda M, Lew M, Paz IB. A carcinoembryonic 124:725–9.
antigen-secreting adenocarcinoma arising within a retro- 5. Guis JA, Stout AP. Perianal cysts of vestigial origin. Arch
rectal tailgut cyst: clinicopathological considerations. Surg 1938;37:268 – 87.
Am J Gastroenterol 2000;95:1344 –7. 6. Edelstein PS, Wong WD, La Valleur J, Rothenberger
3. Horenstein MG, Erlandson RA, Gonzalez-Cueto DM, Ro- DA. Carcinoid tumor: an extremely unusual presacral
sai J. Presacral carcinoid tumor. Report of three cases and lesion. Report a case. Dis Colon Rectum 1996;39:
review of the literature. Am J Surg Pathol 1998;22:251–5. 928 – 42.