Intra-abdominal desmoid tumors in familial adenomatous polyposis: How much do clinical and surgical variables interfere with their development?

OBJECTIVE: Familial Adenomatous Polyposis is a complex hereditary disease that exposes the carrier to a great risk of Colorectal Cancer (CRC). After prophylactic surgery, intra-abdominal desmoid tumors are known to be one the most important cause of death. Therefore, recognition of increased-risk patients and modification of operative strategy may be crucial. AIM: The objective of this study was to estimate the desmoid tumor risk in relation to various surgical and clinical variables. METHODS: Patients who had undergone polyposis since 1958 were included in the study. After exclusion criteria were met, those who had developed desmoid tumors were selected to undergo further evaluation. RESULTS: The study revealed that the risk of developing desmoid tumors was associated with various factors such as sex ratio, colectomy, and reoperations. On the other hand, the type of surgery, family history, and surgical approach did not affect the risk of developing desmoid tumors. The data collected from 146 polyposis patients revealed that 16% had desmoid polyps. The sex ratio was 7:1, and the median age at colectomy was 28.6 years. Family history, multiple abdominal operations, and reoperations were some of the characteristics that were common in desmoid patients. CONCLUSION: Recognition of clinical (female sex) and surgical (timing of surgery and previous reoperations) data as unfavorable variables associated with greater risk may be useful during the decision-making process.

Surgical management of abdominal desmoids: a systematic review and meta-analysis.

BACKGROUND: Desmoid tumours are benign fibromatous tumours arising from dysregulated myofibroblast proliferation within musculoaponeurotic structures. They can occur sporadically but more commonly are associated with genetic syndromes such as familial adenomatous polyposis (Sakorafas et al. in Surg Oncol 16(2):131-142, 2007) (FAP). Mutations in either the Wnt, ß-catenin or APC genes are 'key' triggers for the development of these tumours (Howard and Pollock in Oncol Ther 4(1):57-72, 2016). Classically, these tumours do not metastasise; however, they are associated with significant morbidity and mortality due to their infiltrative pattern and/or local invasion. Historically, surgical resection was the cornerstone of treatment. There remains paucity of data regarding outcomes following the surgical management of abdominal desmoid tumours in terms of success, recurrence and morbidity. OBJECTIVES: The aim of this review was to assess the current evidence for surgical management of abdominal desmoid tumours in terms of success, recurrence and morbidity. METHODS: A systematic search of articles in PubMed, EMBASE and The Cochrane Library databases was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines for the period from January 2000 to November 2020. RESULTS: Twenty-three studies were included, of which, 749 patients had surgical resection (696 for primary and 53 for recurrent desmoids), 243 patients (18.8%) were medically managed and 353 patients (27.3%) underwent surveillance. Median follow-up was 51.4 months (range 1-372). Six-hundred and ninety-six of the 749 resections (92.9%) underwent primary desmoid resection, with the remaining 53 (7.1%) undergoing resection for recurrence. One-hundred and two surgically managed patients (19%) developed a (re)recurrence, with mesenteric involvement the commonest site for recurrence (55%). When comparing recurrence post-surgery to progression following medical therapy, there was a trend towards better outcomes with surgery, with 25% of surgical patients having a recurrence versus 50.5% having progression with medical therapy [OR 0.40 (95% CI 0.06-2.70), p = 0.35]. Major morbidity following surgery was 4.4% (n = 33) with 2% (n = 14) mortality within 30 days of resection. CONCLUSION: The management of desmoids has considerable heterogeneity. Surgical resection for abdominal desmoids remains a valid treatment option in highly selective cases where negative margins can be obtained, with low major morbidity and/or mortality.

Unusual and rare cause of abdominal pain: abdominal desmoid fibromatosis masquerading as a postoperative haematoma.

Desmoid fibromatosis is a rare connective tissue malignancy. It can occur in a variety of locations, including the abdominal wall, extremities and abdominal cavity. There has been an association with development in a prior surgical scar. Common symptoms can vary depending on the location and can include being painless to having pain at the site, functional impairment and bowel obstruction from intra-abdominal masses. In the following report, we discuss a case in which a patient's abdominal pain was attributed to a postoperative haematoma based on CT radiographic features; however, further work-up and biopsy yielded desmoid fibromatosis, a rare locally aggressive malignancy.

A Case of Mesenteric Desmoid Tumor Causing Bowel Obstruction After Laparoscopic Surgery.

BACKGROUND: A desmoid tumor is a rare neoplasm that is derived from soft tissues. Although it shows benign characteristics pathologically, local recurrence can occur. CASE REPORT: We herein report the case of a patient with an intraabdominal desmoid tumor that developed 3 years after laparoscopic appendectomy for acute appendicitis. A 59-year-old male visited our emergency room with complaints of abdominal pain and fullness. Abdominal computed tomography revealed distention of the small intestine with a point of obstruction by an intraabdominal tumor-like region. Pathological findings showed that the tumor was compatible with desmoid fibromatosis. CONCLUSION: In cases with an intraabdominal tumor after laparoscopic surgery, it is important to consider the possibility of a desmoid tumor, since it is difficult to diagnose it accurately before surgery.

Familial adenomatous polyposis associated with desmoid tumors presenting with abdominal abscess: A case report and literature review.

RATIONALE: Familial adenomatous polyposis (FAP) associated with desmoids tumors (DTs) complicated by abscess formation is rare. The management is not easy and the choice of the best treatment may be controversial. PATIENT CONCERNS: A 33-year-old man was admitted to our hospital for abdominal pain, fever, chills, nausea, and vomiting. He had a family history of FAP, and history of abdominal surgery. DIAGNOSES: An abdominal enhanced chest computed tomography (CT) scan revealed a soft tissue mass in the abdominal wall and an irregular mesenteric soft tissue mass with internal fistula and intra-abdominal abscess. A CT-guided biopsy of the abdominal wall mass revealed DTs. INTERVENTIONS: The patient was given oral antibiotics for 6 months, and ultimately underwent surgery. OUTCOMES: The patient had no evidence of recurrence on follow-up at 10 months. LESSONS: This case indicates that for patients with FAP who have a history of abdominal surgery and a progressively enlarging mass and abscess in the abdomen, it is necessary to consider the possibility of DTs. FAP-related DTs are rarely complicated by abscess formation. Antibiotic therapy plus surgical resection of the tumor may be effective and make good prognosis.

[A Case of Intra-Abdominal Desmoid Tumor with Acute Abdominal Pain].

A 70-year-old man was admitted to our hospital with acute abdominal pain. Abdominal CT showed a 6-cm-sized tumor near the third portion of the duodenum, and a duodenal GIST was suspected. Although the abdominal pain was intense and the tumor was suspected to be ruptured, the vital signs were stable; therefore, we initially planned to perform an elective surgery. However, because the pain could not be controlled, the surgery was performed on the 6th day of hospitalization. The tumor appeared to be a duodenal GIST because it was pulling the third portion of the duodenum inwards. It had a strong tendency to infiltrate the surrounding organs; therefore, forced resection of the right colon, which is the surrounding organ, was performed. Pathological findings showed that the resected specimen was a desmoid tumor and the surgical margins were negative. The postoperative course 1 year after surgery was favorable, and no tumor recurrence occurred. We report a case of desmoid tumor, which caused acute abdominal pain.

Mesenteric Fibromatosis: A Case Report.

Fibromatosis of mesentery is a very rare disease and only a few cases have been reported. Here we report a case of 40 year old man admitted on 16 October, 2017 in the Department of Surgery (Unit-3) of Mymensingh Medical College Hospital with history of recurrent abdominal pain and progressively enlarging intra-abdominal lump for 2 years. Out of different diagnostic dilemmas, finally we came to the conclusion of its being a mass lesion primarily arising from the mesentery and involving the adjoining gut according to the report of CT abdomen. Laparotomy was performed and a lump measuring about 18 cm × 20 cm arising from mesentery was found, in which distal part of jejunum and proximal part of ileum were embedded. The mass was excised with incorporated gut loops and histopathology report revealed fibromatosis of mesentery.

Superior Mesenteric Artery Pseudoaneurysms in Patients With Familial Adenomatous Polyposis-Associated Intra-abdominal Desmoids: Case Series.

BACKGROUND: Rupture of a superior mesenteric artery pseudoaneurysm is a rare but potentially lethal complication in patients with familial adenomatous polyposis and desmoid disease. OBJECTIVE: We report our experience in the management of such patients with a rare but significant and life-threatening condition. DESIGN: This is a descriptive study of a small series of patients. SETTINGS: Data were obtained from their medical charts and from the Cologene Database of the David G. Jagelman Polyposis Registry in the Sanford R. Weiss, M.D., Center for Hereditary Colorectal Cancer at the Cleveland Clinic Foundation. PATIENTS: Of 227 patients with mesenteric desmoid disease, there were 4 cases of superior mesenteric artery pseudoaneurysm rupture. MAIN OUTCOMES MEASURES: We reviewed the patients with mesenteric desmoid tumors in our desmoid registry. The registry is approved by the institutional review board of the Cleveland Clinic. RESULTS: The patients were young (aged from 22 to 28 y at presentation), with otherwise minimal comorbidities. Two patients had a previous proctocolectomy and J-pouch, and 2 had a total colectomy and ileorectal anastomosis. Two patients had preemptive endoluminal stenting and fared better than the 2 who had damage control embolization. One patient died and, in the others, recovery was prolonged and complicated. Two of the 4 patients have ended up with a reasonable quality of life. LIMITATIONS: We acknowledge that this is a rare complication of an uncommon disease and, as such, any case series will be limited by small numbers; therefore, a tailored approach is warranted when managing such complex patients. CONCLUSIONS: We advocate an increased awareness of the possibility of visceral pseudoaneurysms in patients with familial adenomatous polyposis who have desmoid disease encasing the superior mesenteric artery. See Video Abstract at http://links.lww.com/DCR/A914.

Desmoid tumor of the mesentery in a patient after restorative proctocolectomy as a result of familial adenomatous polyposis - case reports.

Desmoid (desmoid tumor) is a cytologically benign fibrous tumor that originates from musculoskeletal structures of the entire body [1]. The term "desmoid", first introduced by Muller in 1838, derives from the Greek word desmos, which means tendinous [2]. The etiopathogenesis of desmoid is not fully understood, most reports of publications regarding its treatment are based on individual case reports. The prognosis is good, and healing is achieved mainly through surgical excision of the lesion. The aim of the paper is to present a case of a 33-year-old woman with diagnosed familial polyposis in the colon, who has been identified with mesenteric desmoid.ic desmoid.

Reconstruction of an abdominal wall defect with biologic mesh after resection of a desmoid tumor in a patient with a Gardner's syndrome.

INTRODUCTION: Desmoid tumors are rare proliferative and invasive benign lesions. They can be sporadic, but in most instances, desmoid tumors develop in the context of Gardner's syndrome with principal localization in the abdominal cavity and abdominal wall. CASE-REPORT: We report the case of a 24-year-old female presenting Gardner's syndrome with a symptomatic abdominal wall desmoid tumor. Lack of response to medical treatment led to surgical management consisting in a complete resection and parietal reconstruction with a biologic mesh. Postoperative course was uneventful and there was no evidence of recurrence at 12 months of follow-up. DISCUSSION: Conventional treatment of abdominal wall desmoid tumors consists in a wide and radical resection. However, complete resection is not always feasible because of difficulty to differentiate the desmoid tumor from adjacent tissues. The surgical approach may require different techniques to repair the parietal defect including prosthetic material such as synthetic or biologic meshes. Biological mesh is an ideal alternative to synthetic graft, mainly in case of infection. CONCLUSION: We have encountered a case of a symptomatic growing desmoid tumor of the abdominal wall in a young patient with Gardner's syndrome, successfully treated by complete resection and reconstruction with a biologic mesh to correct the parietal defect.

Paraneoplastic Pemphigus in a 34-year-old.

Paraneoplastic Pemphigus (PNP) is a rare and often fatal autoimmune mucocutaneous blistering disease associated with an underlying malignancy. It is thought to be caused by antibodies to tumor antigenscross-reacting with epithelial antigens, specifically desmosomal and hemidesmosomal antigens. There are at least five clinical morphologic variants of PNP, with the earliest and most consistent finding beingsevere stomatitis. Diagnosis of PNP requires direct immunofluorescence of perilesional skin and indirect immunofluorescence. Treatment of PNP is difficult and largely limited to glucocorticoids, steroid-sparing immunomodulators, rituximab and intravenous immunoglobulin (IVIG). Despite therapies, prognosis is poor. We report a case of paraneoplastic pemphigus in a 34-year old male with severe stomatitis and lichenplanus-like cutaneous lesions.

Toward Observation as First-line Management in Abdominal Desmoid Tumors.

BACKGROUND: Desmoid tumors (DT) occur sporadically, in familial adenomatous polyposis, or in association with pregnancy. Initial observation has been proposed in the management of DT. An advantage of this approach is to select patients who have indolent disease versus those who require intervention. Here we report our multidisciplinary experience of abdominal DT as it relates to nonoperative management. METHODS: Patients seeking care from 1980 to 2012 with pathologically confirmed DT were identified from clinical research databases. Clinicopathologic data and management strategies were collected, and statistical analyses were performed by Chi square and t tests. RESULTS: A total of 213 patients were identified; DT occurred in abdominal wall (n = 103, 48 %), intra-abdominally (n = 92, 43 %), or at both sites (n = 18, 9 %). Patients were predominantly female (72 %); disease was sporadic (48 %), associated with familial adenomatous polyposis (38 %), or associated with pregnancy (14 %). Patient presentation was stratified into 3 groups: untreated (group A; n = 176), DT resected elsewhere (group B; n = 19), or recurrent DT (group C; n = 18). In group A, 109 patients were initially observed, with 51 patients requiring intervention as a result of progression or symptoms. Of the 58 patients who underwent only observation, 93 % experienced spontaneous regression or stable disease (median follow-up 38 months). Of the 67 patients in group A who underwent resection, 28 % experienced recurrence (median 22 months). Abdominal wall DT >7 cm and intra-abdominal DT were more likely to recur (P < 0.01). CONCLUSIONS: Initial observation has been implemented for abdominal DT at our institution. Over half of patients observed required no intervention with prolonged follow-up. Tumor size and site may predict progression during observation, therefore representing higher-risk groups.

Coexistence of mesenteric fibromatosis and Crohn's disease in a child ­a novel case.

Desmoids are benign tumours originating from connective tissue. Their uncontrolled growth can threaten organ function, especially in the abdominal location, when presenting as mesenteric fibromatosis. There have been only a few case reports of the coexistence of mesenteric fibromatosis and Crohn's disease. All of them were in adults, mostly with potential risk factors for desmoid tumours including female sex, oestrogen intake and abdominal surgery. We present, to our knowledge, the first paediatric case of the coexistence of both conditions. A 15 -year -old boy was operated on due to an obstruction of the gastrointestinal tract. Preoperative radiological examination suggested a tumour causing intussusception. Intraoperatively, a tumour and a significant length of infiltrated ileum were resected. Histopathological examination confirmed a desmoid tumour in the course of mesenteric fibromatosis and Crohn's disease. The patient has been treated pharmacologically since. Further research is needed to explain their origin and simultaneous appearance in children.

Patterns of Adenoma Recurrence in Familial Adenomatous Polyposis Patients after Ileal Pouch-Anal Anastomosis.

AIM: This study aims at identifying the risk factors for the development of pre-cancerous pouch and/or cuff adenomas post ileal pouch anal anastomosis (IPAA) in familial adenomatous polyposis patients. METHOD: We retrospectively studied 59 patients operated at a single medical center during a 26-year period. Data on the timing and location of adenoma recurrence were recorded and possible correlations with patients' gender, age, presence of desmoid tumor, duodenal adenomas, type of anastomosis and number of operation stages were analyzed. RESULTS: Thirty-five (59%) patients had at least one adenoma in either the cuff or the pouch, including 20 with isolated cuff adenomas, 4 with isolated pouch adenomas and 11 patients with adenomas in both the pouch and cuff. There was no significant correlation between gender, age at surgery, type of anastomosis, number of operative stages and the development of pouch or cuff adenomas. Desmoid tumor and pouch adenomas were significantly correlated with cuff adenomas formation. Duodenal adenomas were associated with pouch adenomas. There was some relationship between the development of cuff adenomas and the burden of colonic polyps, as well as the presence of duodenal adenomas. CONCLUSION: Adenomas in both the pouch and cuff commonly occur following IPAA, mandating lifelong annual endoscopic surveillance.