December 6, 2006
An Unusual Presentation of Desmoid Tumor in the Ileum
By Singh, Neeraj; Sharma, Rohit; Dorman, Sanford A; Dy, Victor C
Desmoid tumors are nonencapsulated, locally invasive tumors of fibrous origin. Although lacking the ability to metastasize, they are notorious for recurrence. A wide variety of locations have been documented in the literature with respect to the origin of these tumors. Intra-abdominal desmoids are commonly found in the mesentery. We present the report of a case in which a sporadic desmoid tumor originated from the wall of the ileum. The patient was successfully treated with surgery alone, and has remained recurrence free on follow-up. Modalities of treatment documented in the literature include surgery, nonsteroidal, anti-inflammatory drugs such as sulindac, and chemotherapeutic drugs such as vinblastine and methotrexate, radiotherapy, and, recently, tyrosine kinase inhibitors such as Imatinib (gleevec). Of all the options described, surgery with tumor-free margins has been defined as the best treatment modality.DESMOID TUMORS ARE nonencapsulated, locally invasive tumors of fibrous origin that lack the ability to metastasize, but are very notorious for recurrence. Also referred to as fibromatoses, desmoids are characterized histologically by spindle-shaped cells, surrounded by and separated from one another by abundant collagen. Desmoid tumors arise from the connective tissue of muscles and the underlying fascia, and may arise in a variety of locations.
Abdominal desmoids characteristically recur in the abdominal wall of women in their childbearing years either during or after a pregnancy. Extra-abdominal desmoids typically occur in the chest wall, back, shoulder girdle, upper arm, and thigh. Intra-abdominal desmoids are much rarer, occurring in the pelvis and mesentery.1-6 In the mesentery, they are usually associated with Gardner's syndrome and possibly familial adenomatosis polyposis, with the reported incidence ranging from 0.38 per cent to 3.5 per cent.7 Desmoids have been observed at sites including the esophagogastric junction,8 the pancreas,9 and the appendix.10 Sporadic intra- abdominal desmoid tumors are rarer than those associated with genetic disease.1-6
Surgery is considered the main treatment modality, if feasible. Other modalities such as chemotherapy, radiotherapy, and antiestrogen therapy are used in the case of incomplete excisions or inoperable tumors. We report the case of a young man successfully treated with surgery alone.
A 44-year-old man presented to his primary care physician complaining of a mass on the right side of his lower abdomen that he had noticed 2 weeks previously. The appearance of the mass was associated with generalized fatigue. The patient did not complain of fever, a change in bowel habits, or of urinary frequency, urgency, or pain. His past medical history was significant for a splenectomy as a result of trauma, a colectomy for diverticular disease, an appendectomy and cholecystectomy.
On physical examination, the abdomen was soft, nontender, and nondistended with a palpable mass over the right lower quadrant. Laboratory investigations were noncontributory.
A computerized tomography (CT) scan demonstrated a 9-to 10-cm smoothly rounded mass located in the mid to right lower abdomen (Fig. 1). The mass appeared to be in continuity with the distal ileum and right colon. Colonoscopy revealed the ileum to be compressed from the outside at 5 cm above the ileocecal valve, which did not open with air insufflation. There was no mucosal abnormality.
At exploratory laparotomy, dense adhesions between the small bowel loops and abdominal wall were dissected, and a large mass adherent to the ileum was seen. The ileum was divided proximally and distally to the tumor, and the ileum with the tumor and a portion of the mesentery were removed. The postoperative course of the patient was clinically unremarkable as documented by interval CT scans.
Pathologically, the excised portion of the ileum was found to contain no mucosal lesions. The mass was adherent to the serosal surface and measured 12 12 10 cm. The cut surface of the mass was yellow-gray and white in color. Microscopically, the tumor contained fusiform nuclei with wavy cytoplasm and no cytologie atypia. Tumor cells were arranged in loose bundles (Fig. 2). The tumor was seen invading the muscularis propria of the small intestine, but did not penetrate the overlying mucosa (Fig. 3). Immunoperoxidase for CD 117 (C-Kit) was negative, ruling out a gastrointestinal stromal tumor (GIST).
FIG. 1. CT scan of the abdomen and pelvis showing a tumor mass arising from the terminal ileum.
FIG. 3. Desmoid tumor invading the muscularis of the small bowel.
Desmoids are rare and are generally benign. Intraabdominal desmoids, or ileal desmoid tumors, are usually seen in patients with familial adenomatous polyposis (FAP): patients with FAP and a family history of desmoid tumors have a 25 per cent chance of developing desmoids.7 However, some studies have reported an incidence as low as 10 per cent in patients with FAP.11 Various biological and chemical factors have been reported as playing a role in the growth of desmoids. Patients with FAP usually have one defective copy of the adenomatous polyposis coli gene. For a desmoid to develop, the second normal copy must also be lost.7
FIG. 2. Desmoid tumor showing tumor cells in loose bundles.
The growth rate of desmoids is unpredictable, and spontaneous regression has been reported.12, 13 Surgical trauma has been implicated as an etiological factor in the development of desmoids,14-17 which have been reported to occur as early as 3 months and as late as 5 years after surgery.14 In our case, the patient had undergone sigmoid colectomy, appendectomy, splenectomy, and cholecystectomy before his presentation with the abdominal mass.
The recurrence rate after incomplete excision is high, suggesting that surgical trauma may be a causative factor for a new somatic mutation.15, 16 Some studies have emphasized that hormonal factors (particularly estrogen14, 17 and prostaglandins18) can influence the growth of desmoids. A 10 per cent incidence of desmoids has been observed in patients with FAP, with desmoids seen as the leading cause of death in FAP patients after prophylactic colectomy.11
The incidence of sporadic intra-abdominal desmoid tumors is rare.1-6 Intra-abdominal desmoids can present as suprapubic masses of long standing duration10 or as abdominal masses.4, 5, 9, 11, 19 Presenting symptoms include anemia,8, 11 weight loss,6, 8, 19 malnutrition and ureteric obstruction,11 abdominal pain,5, 8 nausea and vomiting,5, 8 dysphagia,8 and a raised white blood cell count.5 Our patient presented with an abdominal mass of 2 weeks duration.
Although surgical intervention is advocated as the best modality of treatment by many,4-6, 8-11, 20-22 a variety of other approaches have been described.18, 19, 22-26 The objective is to obtain tumor- free margins wherever possible. The difficulty in treatment associated with intra-abdominal desmoids is principally related to their location in the vicinity of strategic organs. This presents a challenge in obtaining tumor-free margins. A positive margin is the leading cause of recurrence, although the extent needed for a clear margin is not defined in literature.
Wide excision has been recommended as the preferred mode of treatment because of the risk of local recurrence after incomplete excision of the tumor, which often invades the surrounding viscera.15, 16 En bloc excision, along with the adjacent bowel, has been recommended as the preferred method of treatment for desmoid tumors of the mesentery.2 In the present case, a wide-margin resection with anastamosis of the bowel was performed. The pathological margins were negative in all directions by at least 3 centimeters.
Proposed adjuvant therapies for the treatment of desmoid tumors include perioperative use of drugs such as Sulindac and Toremifene.22 Other modalities of treatment have been explored in the literature, including radiotherapy,19, 27 nonsteroidal anti- inflammatory drugs such as sulidac and indomethacin,18 chemotherapy including vinblastine and methotrexate,25, 26 and antiestrogens such as tamoxifen,28, 29 especially in patients where complete resection is not possible.19, 22-24
The main differential diagnoses of tumors extrinsic to the small intestine are GIST, lipomas, hamartomas, and metastatic adenocarcinomas, intestinal carcinoids, and lymphomas. In our patient, our primary differential diagnosis was GIST based on the clinical, radiologic, and pathologic gross appearance of the specimen. A negative CD117 ruled out GIST.
Sporadic desmoid tumors have been reported to arise from various abdominal and extra-abdominal sites. Intra-abdominally, the most common location is within the mesentery, but other rare sites such as the esophagogastric junction, pancreas, and appendix have been reported in the literature. Our patient had a desmoid tumor arising from the wall of ileum. Among the treatment options, surgery with tumor-free margins has been defined as the best modality of treatment. However, there remains a need for a wider range of therapeutic options in the management of tumors for which surgical intervention is not possible.
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NEERAJ SINGH, M.D.,* ROHIT SHARMA, M.D.,* SANFORD A. DORMAN, M.D.,[dagger] VICTOR C. DY, M.D.*
From the Departments of * Surgery and [dagger] Pathology, Easton Hospital, Easton, Pennsylvania
Presented at the Annual Scientific Meeting and Postgraduate Course Program, Southeastern Surgical Congress, Lake Buena Vista, FL, February 18-21, 2006.
Address correspondence and reprint requests to Neeraj Singh, M.D., Department of Surgery, Easton Hospital, 250 South 21st Street, Easton, PA 18042.
Copyright The Southeastern Surgical Congress Sep 2006
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