Eight CT examinations were performed on six patients. Mesenteric masses were. Desmoid. Tumors in Gardner. Syndrome: Use of Computed. Tomography.
1141
Desmoid Tumors Syndrome: Use of
in Gardner Computed
Tomography
Donna Magid1 ElliotK. Fishrnan Bronwyn Jones Herbert C. Hoover Richard Feinstein Stanley S. Siegelman
Desmoid tumors are known to be associated with Gardner syndrome and, when in the mesentery, can contribute to morbidity and mortality. Computed tomography (CT) was used to evaluate six patients with Gardner syndrome who, after colectomy, complained either of abdominal pain or of palpable masses. In five patients, desmoids of the mesentery, abdominal wall, and paraspinous muscles were diagnosed; four of these were later proven surgically. The sixth case, with both CT and subsequent located
surgery negative for desmoid lesions, is included to illustrate the ability of CT to replace exploratory surgery in certain instances. CT provides a relatively noninvasive means of assessing and following patients with Gardner syndrome after colectomy and delaying or preventing further surgery or, if necessary, providing a surgical “road map” to optimize unavoidable procedures.
The desmoid tumor, a nonencapsulated, locally invasive form of fibromatosis, is seen in 1 7%-29% of patients with Gardner syndrome, although the incidence in the general population is only 0.03% [1, 2]. In patients with Gardner syndrome, desmoids are believed to be associated with prior surgery and tend to recur after local excision. Computed tomography (CT) provides a relatively noninvasive means of assessing the postcolectomy Gardner syndrome patient with abdominal pain, in whom it is desirable to avoid further surgery. We present our experience evaluating six postcolectomy Gardner syndrome patients and their associated desmoid tumors.
Subjects
and Methods
CT studies
were
had been established
performed
in six patients
by clinical findings,
in whom
the diagnosis
family history, and surgical
of Gardner
pathology.
syndrome
All patients
had undergone prophylactic colectomy; the surgical specimen in each case was negative for tumor. Four patients were studied because of palpable thoracolumbar masses that were causing discomfort on motion. One patient was studied because of a palpable abdominal
mass discovered on routine follow-up physical examination. Examinations were performed on either a Siemens Somatom kVp,
Received October 7, 1983; accepted after revision January
12, 1984.
All authors:
Russell H. Morgan Department
Radiology and Radiological Medical Institutions, 600
MD 21205. Address gelman. AJR
142:1141-1145,
of
Johns Hopkins St., Baltimore, reprint requests to S. S. SieJune
Science, N. Wolfe
1984
0361 -803x/84/1426-1 141 © American Roentgen Ray Society
DR-3 scanner
using 125
3.2 sec, 230 mAs,
and 4- or 8-mm slice thickness or a Pfizer/AS&E scanner (model 500) using 125 kVp, 5 or 1 0 sec, 20 or 50 mA, and a slice thickness of 5 or 10 mm. Patients received three oral doses of 240 ml each of a flavored 3% solution of Hypaque at 20-mm intervals beginning 60 mm before the examination. An intravenous injection of 50 ml of 60% methylglucammne diatrizoate (Hypaque) was given immediately before the examination in all
cases except one (due to a known allergy to iodinated contrast media). Scans were performed at 2-cm intervals from the level of the diaphragm to the symphysis pubis, with additional scans as needed.
Results Eight CT examinations
were
performed
on six patients.
Mesenteric
masses
were
1142
MAGID
ET AL.
AJR:142,
June 1984
Fig. 1 -22-year-old woman, 1 0 months after cclectomy and ileorectal anastomosis, with abdominal pain and symptoms of bowel obstruction. A, At level
of umbilicus: evidence mass within mesentery tery believed
of dilated small bowel and
(arrow). Changes in mesento be consistent with mesenteric fibrosis
or desmoid. B, At 53 level: moderately dilated small bowel loops. Surgery was performed and mesenteric fibromatosis with fibroblastic proliferation was confirmed on histologic review.
Fig. 2-25-year-old man, 18 months after subtotal colectomy with ileosigmoidostomy, with persistent back pain. No gastrointestinal symptoms were related to back pain. A, At level of Ti 1: soft-tissue mass
involves
left quadratus
lumborum
muscle
(arrows).
Incidentally noted right adrenal adenoma (arrowhead). B, At level just above iliac crest: soft-tissue mass involves right quadratus lumborum muscle and thoracolumbar muscle. Mesenteric desmoids (arrow) in bowel mesentery, but no evidence of bowel obstruction.
seen in five cases, with three pathology. The size of these
subsequently proven by surgical masses ranged from 2 to 8 cm, with attenuation values of 40-60 H. Three cases had single mesenteric masses (figs. 1 -3); in two cases, two or more discrete masses were noted (figs. 4 and 5). Associated small bowel distension was seen in one case (fig. 1); in three cases, small bowel was displaced but not obstructed. Desmoid masses involving the abdominal musculature and preexisting laparotomy scars were seen in three studies involving two patients. After the initial study on one patient, she had extensive surgical debulking of the abdominal wall lesions; the masses seen on the second scan (fig. 6) represented recurrence and marked extension of tumor in the abdominal wall and in the surgical scar. In each case, surgical pathology confirmed the diagnosis. The lesions were 2-18 cm in diameter, with attenuation values of 40-60 H. In one patient, the right quadratus lumborum and the left thoracolumbar musculature were involved with large surgically proven desmoid tumors (fig. 2). The lack of clear demarcation of muscle planes correlated with the infiltrative tumor
margins
noted
at histologic
sectioning.
Pelvic osteomas were noted incidentally on CT scans in one patient (fig. 6). The average time from original prophylactic colon surgery to the time of abdominal symptoms or discovery of palpable abdominal mass was 2 years, 4 months (range, 9 months to 1 4 years, 9 months). For seven of the eight CT examinations, surgery was performed within weeks after the scan and surgical pathology confirmed the diagnosis. In one asymptomatic patient with a palpable mass, surgery was deferred. In the patient with large paraspinous masses, there were no symptoms referable to his mesenteric findings; surgery therefore was limited to the back musculature. One patient had surgery, although CT had not demonstrated significant intraabdominal pathology; this absence of significant abnormality was confirmed by surgical findings.
Discussion
Gardner syndrome is an autosomal-dominant colonic polyposis with well established extracolonic manifestations [3-8].
CT
AJR:142, June 1984
Fig. lectomy
OF
DESMOID
TUMORS
IN GARDNER
SYNDROME
1143
man, 12 years after total ccwith ileorectal anastomosis. On routine phys-
3-38-year-old
ical examination,
abdominal
mass
was
palpated;
pa-
tient was symptom-free. A, At level of middle of kidneys: soft-tissue mass at midline (arrows). Jejunal loops are displaced but not obstructed by mass. B, Scan at level of lower pole of kidneys better defines full extent of mesenteric mass, which is 8 cm in diameter. Again, small bowel loops are displaced but not obstructed.
Fig.
woman, 1 year after proctowith recurrent abdominal pain. At level of of kidneys: mass in mesentery with jejunal
4-39-year-old
colectomy, midplane
Fig. 5-23-year-old woman, 2 years after partial colectomy, with recurrent lower abdominal Soft-tissue mass involves right rectus abdominis muscle and subcutaneous soft tissue compatible desmoid. B, At level of iliac crest: 6.5-cm mass just beneath abdominal wall.
pain.
A, with
dilatation (arrows).
Polyposis of patients
the most
coli is both the most phenotypically
finding, of the
seen in 67%
syndrome,
and
Without appropriate treatment, malignant polyps seems inevitable [9]. Therefore, for the population at risk, early identification and prophylactic excision of the tissue at risk (i.e., the colon) remains the preferred management [101. Soft-tissue anomalies, including epidermal or sebaceous cysts, subcutaneous fibromas and lipomas, and desmoid tumors, can be seen at any age in the Gardner syndrome population; however, only the desmoid lesions are believed to be provoked by surgery. Desmoid tumors account for about 45% of the fibrous lesions in Gardner syndrome [11]. Most commonly, the desmoid tumor is seen in the anterior abdominal wall and may arise in prior degeneration
significant.
common
expressive
of the
laparotomy scars; less commonly, the lesion is seen in other musculoaponeurotic structures or in the mesentary. Microscopically, the lesions consist of mature fibroblasts and collagen, with the tumor axis usually parallel to that of the fibers or the host skeletal muscle bundles. Although it can be locally aggressive and tends to recur after local excision, the desmoid is classified as a benign tumor [8, 1 2]. The incidence of abdominal wall lesions is believed to be increased in those patients with prior abdominal surgery. These lesions usually are clinically apparent and, as a rule, require no special followup. However, by size or by position they may become cosmetically deforming, mechanically awkward, or painful. Particularly bulky tumors (e.g., fig. 5), although technically confined to the abdominal wall structures, may project inward and
MAGID
1144
ET AL.
AJR:142, June 1984
Fig. 6.-Repeat study of patient in fig. 5, 4 years later, with severe subxiphoid pain. A, 2-cm mass at level of xiphoid compatible with desmold (arrow). B, Desmoid at site of previous surgery. Surgical suture (arrow).
displace or compromise such as bladder or bowel.
pelvic
or
intraperitoneal
structures
Unfortunately, nonsurgical treatment methods to date have proven unreliable in controlling abdominal wall lesions, and the standard treatment remains radical surgical excision with wide margins of normal tissue. Since all layers of the abdominal wall except for the skin are involved, a large defect results, which often must be bridged with mesh. In patients with Gardner syndrome, the postoperative recurrence rate approaches 50% and often leads to still further surgery [1 11. Far more problematical are the mesenteric desmoid lesions associated with Gardner syndrome. The most common site for mesenteric desmoid formation is at the base of the small bowel mesentery. These so-called benign lesions can be relentless, and ultimately malignant, in their behavior. Like the abdominal wall desmoids, mesenteric lesions are nonencapsulated, irregular, and infiltrative. Although they may cause intestinal and ureteral obstruction and intestinal fistulae requiring surgery, they the time of surgery.
often Like
prove incompletely resectable at abdominal wall desmoid tumors,
mesenteric desmoids may arise spontaneously, but the possibility that surgery initiates or incites this reaction remains [1 3]. The increased incidence of postcolectomy small bowel obstruction in Gardner syndrome patients, compared with non-Gardner syndrome postcolectomy populations, is believed to reflect this increased tendency toward desmoplastic response. This may represent a defect in the regulation of connective tissue growth [1 3]. Desmoid tumors in either site may be seen before the diagnosis of Gardner syndrome and therefore before laparotomy, so a simple direct causal relation between surgery and the tumor cannot be assumed [1 1]. However, surgical trauma does seem to provide some sort of fibroblastic stimulus; therefore, although other forms of therapy have not yet been shown to be reliably effective, it is wise to minimize surgical procedures in these patients [13]. CT scans have replaced exploratory surgery in the diagnosis and follow-up of these lesions, simplifying the care of these patients and minimizing both the number and the extent of surgical procedures.
Osteomas
of bone are clearly
seen.
The postcolectomy Gardner syndrome patient may present at any time with complaints of abdominal pain. Such a patient, having had extensive surgery and being at risk for all the findings associated with this syndrome, can pose a difficult diagnostic problem. Until recently, confirmation of the presence and precise determination of the extent of mesenteric desmoids could only be established intraoperatively. Less invasive diagnosis studies have been, in the past, unrewarding. Barium studies in patients with extensive bowel surgery can be of only limited utility in assessing mesenteric and extraluminal lesions. Mesenteric involvement may be reflected in serosal changes in bowel or in tethering or kinking of bowel
loops.
Extensive
mesenteric
or
retroperitoneal
in-
volvement can lead to recurrent small bowel obstruction, with appropriate but nonspecific findings [1 4]. Gray-scale sonography will show mesenteric lesions as well defined solid masses of relatively homogeneous low echogenicity with scattered high-amplitude internal echoes believed to represent mesenteric fat and vessels. Unlike mesenteric lymphomas, which they resemble, these desmoid lesions are not associated with retroperitoneal adenopathy [1 5]. The utility of sonography is limited, however, by overlying bowel and by its relative limitations in defining deep abdominal structures. The utility of CT, conversely, lies in its ability to define both extraluminal and deep-lying abdominal structures. The mesenteric desmoid lesions characteristically have a density of about 50-60 H and are nonenhancing. Postoperative adhesions or fibrosis would have a similar soft-tissue density but would lack the true masslike appearance typical of mesenteric desmoids and are associated histologically with an inflammatory component of mesenteritis not seen with desmoid tumors [1 4]. As mentioned earlier, mesenteric lymphoma also presents a similar CT appearance but is made less likely in these instances by the clinical history of Gardner syndrome and by the absence of retroperitoneal adenopathy [1 5]. The relation of the mesenteric desmoid to the superior mesenteric artery and vein and to other major vessels should be assessed preoperatively, since such lesions may spread extensively along the mesentery or may be multiple. Thorough opacifi-
AJR:i42,
June 1984
CT
OF
DESMOID
TUMORS
cation of the small bowel is necessary to determine the relation of the lesion to the bowel, which may be matted together, displaced, or obstructed by mesenteric lesions. CT may also be used to judge the efficacy and side effects of nonsurgical
therapy,
including
radiotherapy
and
a variety
of chemotherapies. Radiotherapy may slow abdominal wall or mesenteric tumor growth or even reverse it, but dose is limited by the need to preserve underlying intestinal and intraperitoneal structure [1 6]. Hormonal therapy, especially with antiestrogens, has been tried but with minimal success; such research was based on the observation that desmoids in the non-Gardner syndrome population were seen most often in fertile, premenopausal females [1 7, 1 8]. Such therapy may be more successful when used in the limited population of tumors
with
found
to have
estrogen
receptors.
radiation
follow avoid
and
various
chemotherapies.
desmoid tumor progression unnecessary or emergency
in whom
surgery
is to be
avoided
The
ability
to
noninvasively may help to surgery in these patients, if at all possible.
If and
when surgery becomes inevitable, CT facilitates surgical planning by evaluating the relation of the desmoid tumor to major vessels and to other vital structures. The true margins of muscular or abdominal wall lesions may be clinically obscured by the infiltrative nature of the lesions. CT can define the actual extent of tumor for appropriate excision with clean margins, should surgery be deemed necessary.
1145
1 . Naylor
EW, Gardner EJ, Richards RC. Desmoid tumors and mesenteric fibromatosis in Gardner’s syndrome. Arch Surg 1979;114:1181 -1185 2. Naylor EW, Lebenthal E. Gardner’s syndrome: recent developments in research and management. Dig Dis Sci 1980;25:945959 3. Gardner EJ. A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am JHum Genet 1951;3:167-176 4, Gardner EJ, Richards RC. Multiple cutaneous and subcutaneous lesions
5.
of testolactone,
to
SYNDROME
REFERENCES
6.
Chemotherapy
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a combination
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