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.

What is the best front-line approach in patients with desmoid fibromatosis? - A retrospective analysis from a reference center.

INTRODUCTION: Desmoid fibromatosis (DF) is a locally aggressive, not metastasizing tumor associated with high local recurrence rates. Surgery was a standard-of-care for DF treatment; however, recently, conservative treatment and active surveillance are preferred. This study aimed to evaluate the real-life outcomes of DF treatment. MATERIALS AND METHODS: All consecutive patients diagnosed with DF and treated between 01.1999 and 12.2018 at one sarcoma reference institution were included in this retrospective analysis. Kaplan-Meier estimator, long-rank test, Cox regression model, and Chi2 tests were used for statistical analyses. RESULTS: The analyses included 363 patients (254 female, 109 male). 195 patients (53.7%) underwent surgical resection, and 139 (38.3%) experienced a watch-and-wait approach with or without concomitant therapy with nonsteroid anti-inflammatory drugs (NSAIDs) in the first line. Disease recurrence/progression occurred in 43.2% of patients treated with surgery and 42.6% in the watch-and-wait group, resulting in 5-year event-free survival (EFS) rates of 60% and 55%, respectively. There was no difference in EFS between both groups (HR1.28, 95%CI 0.91-1.79). Surgery without prior biopsy and extra-abdominal wall location was associated with inferior outcomes. CONCLUSIONS: Results of DF treatment in our center showed that watch-and-wait approach ± NSAIDs has similar efficacy to upfront surgery and allows to avoid unnecessary surgery in approximately half of the patients, primarily when tumors are located in unfavorable sites, like extremities.

Extra-abdominal desmoid tumor fibromatosis: a multicenter EMSOS study.

BACKGROUND: Extra-abdominal desmoid tumor fibromatosis (DTF) is a rare, locally aggressive soft tissue tumour. The best treatment modality for this patient cohort is still object of debate. QUESTIONS/PURPOSE: This paper aimed to (1) to compare the outcomes of DTF after different treatment modalities, (2) to assess prognostic factors for recurrence following surgical excision, and (3) to assess prognostic factors for progression during observation. METHODS: This was a retrospective multicenter study under the patronage of the European Musculoskeletal Oncology Society (EMSOS). All seven centres involved were tertiary referral centres for soft tissue tumours. Baseline demographic data was collected for all patients as well as data on the diagnosis, tumour characteristics, clinical features, treatment modalities and whether they had any predisposing factors for DTF. RESULTS: Three hundred eighty-eight patients (240 female, 140 male) with a mean age of 37.6 (±18.8 SD, range: 3-85) were included in the study. Two hundred fifty-seven patients (66%) underwent surgical excision of ADF, 70 patients (18%) were observed without therapy, the residual patients had different conservative treatments. There were no significant differences in terms of tumour recurrence or progression between the different treatment groups. After surgical excision, younger age, recurrent disease and larger tumour size were risk factors for recurrence, while tumours around the shoulder girdle and painful lesions were at risk of progression in the observational group. CONCLUSION: Local recurrence rate after surgery was similar to progression rates under observation. Hence, observation in DTF seems to be justified, considering surgery in case of dimensional progression in 2 consecutive controls (3 and 6 months) and in painful lesions, with particular attention to lesions around the shoulder girdle.

Desmoid tumours in the surveillance era: What are the remaining indications for surgery?

The treatment of desmoid tumours (DTs) has greatly evolved in recent years, and surgery is no longer considered a first-line treatment. Percutaneous biopsy with molecular analysis for beta-catenin or APC gene mutation provides a certain diagnosis. After imaging, a specialized multidisciplinary tumour board (MDT) addresses the following therapeutic strategy. As more than half of patients stabilize or regress, despite initial progression, active surveillance is offered to most patients as the first option. Surgery is proposed for complications such as perforation and occlusion, which sometimes are the first manifestations of the disease. In these cases, limiting surgery to the treatment of complications and leaving the tumour in place is possible if significant bowel sacrifice is needed, especially in patients with previous colectomy for polyposis. Medical therapy is discussed by the MDT in cases of functional or life-threatening masses and is preferred to local treatments that could be mutilating and often incomplete. First-line surgery is now contraindicated in cases of incomplete unplanned surgery, recurrence, pregnancy or DTs occurring in familial adenomatous polyposis (FAP). The best indications of second-line surgery are significantly progressing disease when morbidity is acceptable, such as parietal locations. Medical and other locoregional treatments (radiotherapy, isolated limb perfusion and cryotherapy) should be considered by the MTB when surgery might cause sequelae.

Surgical excision versus observation as initial management of desmoid tumors: A population based study.

SYNOPSIS: Desmoid tumors can be safely managed with watchful waiting, including either observation alone or tamoxifen/NSAIDs. Surgery at first presentation can be associated with significant treatment burden. BACKGROUND: Immediate surgery was historically recommended for desmoid tumors. Recently, watchful waiting, (tamoxifen/NSAIDs or observation alone), has been advocated. METHODS: All diagnoses of desmoid tumor within the Alberta Cancer Registry from August 2004 to September 2015 were identified. Patients with FAP were excluded. Demographics, tumor characteristics and treatment and outcome data were collected. Outcomes were compared between immediate surgery and watchful waiting. The effect of abdominal wall site on progression and recurrence and the effect of microscopic margin on recurrence were assessed with Fisher's exact test. RESULTS: We identified 111 non-FAP patients. Median follow-up was 35 months from diagnosis. 74% were female. Mean age was 42. Fifty (45%) underwent watchful waiting, of whom 21(42%) progressed, with median PFS of 10 months. Fifty-three (48%) underwent resection at presentation, of whom 8 (15%) recurred, with median disease-free survival of 22 months. Abdominal wall lesions were equally represented in both groups, and equally likely to progress on watchful waiting (50% vs 39%, p = 0.53), but there was a trend toward decreased recurrence after surgery. (5% vs 23%, p = 0.08). Microscopic margin had no effect on recurrence (14% of margin negative vs 20% of margin positive, p = 1.0). CONCLUSIONS: Watchful waiting was successful in 58% of patients, and a further 28% only required one aggressive treatment thereafter, for a total of 86%. Surgery had a favorable recurrence rate (15%), but some recurrences were associated with significant treatment burden. Treatment should be tailored to individual patients in a multidisciplinary setting. A trial of observation appears warranted in most patients. Recurrence rate was not affected by positive margins.

Multivisceral transplant is a viable treatment option for patients with non-resectable intra-abdominal fibromatosis.

BACKGROUND: Intra-abdominal fibromatosis often involves the mesentery root which is non-resectable by conventional surgery. Multivisceral transplant (MVT), as a potential cure to non-resectable fibromatosis, has rarely been reported and the prognosis is unknown. METHODS: Six patients who underwent MVT for intra-abdominal fibromatosis were reviewed. Clinicopathological features, immunohistochemistry for ß-catenin, p53, and Ki67, and outcomes were evaluated. Appropriate data for comparative analysis were obtained from a cohort of 24 patients who underwent conventional resection for intra-abdominal fibromatosis. RESULTS: Among six MVT patients, four had familial adenomatous polyposis (FAP). Two patients had an initial intestinal transplantation, three had multiple prior surgeries, and two had adjuvant therapy. One patient died of hemorrhagic stroke shortly after MVT, and five patients (83%) survived with a median follow-up of 64 months. The 1-year and 5-year survival rates were 67% for all five patients. Two patients had recurrences after MVT and one of them had FAP. In comparison, six of 24 patients who underwent conventional surgery had FAP; six (25%) had recurrences and three had FAP. For FAP patients; the mean recurrence time was 13 months for MVT versus 6 months for conventional surgery. Ki67 proliferative index, ß-catenin, and p53 expression did not significantly correlate to recurrence. CONCLUSIONS: Multivisceral transplant (MVT) is a viable option for patients who have non-resectable intra-abdominal fibromatosis with promising surviving rates, although recurrence still occurs. Surgical margin, Ki67 proliferative index, ß-catenin, and p53 expression are not predicative for recurrence of fibromatosis.

The management of soft tissue tumours of the abdominal wall.

BACKGROUND: Soft tissue tumours of the abdominal wall account for approximately 10% of all soft tissue tumours. Tumours at this site comprise a heterogeneous group of pathologies with distinct clinical behaviours and responses to treatment. The management of these tumours has largely been extrapolated from studies of soft tissue tumours at other sites. This review aims to summarise the existing data relating to abdominal wall tumours and suggest principles for managing soft tissue tumours at this site. METHODS: Relevant articles were retrieved from a comprehensive literature search using the PubMed database. Key words included abdominal wall, soft tissue tumours, surgery, radiotherapy and chemotherapy. No restrictions on publication date were used. RESULTS: The most common pathologies presenting in the abdominal wall are desmoid tumours, soft-tissue sarcoma and dermatofibrosarcoma protuberans (DFSP). Desmoid tumours should be managed with an initial period of observation, with surgery reserved for progressive lesions. Surgery should be the primary treatment for soft-tissue sarcomas and DFSP, with radiotherapy reserved for large-high grade tumours and preferentially given pre-operatively. CONCLUSIONS: Abdominal wall tumours are rare and should be managed in centres with experience in the management of soft tissue tumours. Management should be tailored to the biological behaviour of specific pathologies.

High-intensity focused ultrasound treatment for intra-abdominal desmoid tumors: a report of four cases.

Desmoid tumors are rare clonal fibroblastic proliferations that can arise at abdominal or extra-abdominal sites. Complete surgical resection is the primary treatment for resectable desmoid tumors, but a high rate of local recurrence has been reported even after complete resection. For patients with a recurrent tumor, the goals of treatment are to control the recurrence, maintain quality of life, and prolong survival. Radiofrequency ablation, radiotherapy, chemotherapy, and other medical therapies can be used as alternative methods, but there are considerable controversies over the roles of these methods in the management of desmoid tumors. High-intensity focused ultrasound (HIFU) is a minimally invasive and effective method for treatment of solid tumors. We used HIFU to treat four patients with intra-abdominal desmoid tumors from June 2011 to September 2013. Post-procedural pain was seen in all patients. One patient had an intra-abdominal abscess and another suffered a slight injury to the femoral nerve. The patients were followed up for 19-46 months (mean 34 months) until April 2015. The tumor in one patient disappeared, and no tumor progression was observed in the other patients.

Intra-abdominal desmoid tumors: a case report.

INTRODUCTION: Desmoid tumors are defined as a rare fibroblastic proliferative disease and may occur in any musculoaponeurotic or fascial tissue . CASE REPORT: A 54-year-old man with FAP referred to our institution presenting fever and abdominal pain. Four years before a prophylactic colectomy with ileal-rectal anastomosis was done. Three years later a wide intraabdominal mass with desmoid characteristics was detected. In spite of therapy with tamoxifene the RM control showed an increase of mass dimension. Few days later the patient arrived in our istitute with fever and abdominal pain. Medical therapy didn't improve clinical symptoms and the patient underwent surgery. DISCUSSION: Desmoid tumors are benign tumors, but not a benign disease. Most of these tumors occur sporadically, but about 5% arise in association with familial adenomatous polyposis. Intra-abdominal desmoid tumors remain asymptomatic until their growth and infiltration causes visceral compression. They can cause serious complications and treatment is often unsuccessful. Aggressive fibromatosis treatment should be evaluated and managed by a multidisciplinary team with expertise and experience in sarcoma, prior to initiation of therapy. In FAP, surgery has been recommended for abdominal wall tumors but there are only few indications for intra-abdominal disease like pain, bowel obstruction and desmoids perforation.

Mesenteric fibromatosis.

Mesenteric fibromatosis is a rare, locally invasive, non-metastasizing type of intra-abdominal fibromatoses with a very high rate of recurrence. Because of rarity, these tumors pose a diagnostic and therapeutic challenge. These tumors may remain asymptomatic, but commonly present as a painless mass. There are no clear treatment guidelines. Surgical excision with wide margin is the preferred modality of treatment. Medical therapy is indicated for inoperable and recurrent tumors. There are several isolated case reports on mesenteric fibromatosis with different and unusual presentations and its complications. Though several studies have been published on extra-abdominal fibromatosis as well as on extramesenteric abdominal fibromatosis, but extensive research studies are still lacking on mesenteric fibromatosis. The aim of this article is to present current knowledge on mesenteric fibromatosis, our experience of four cases, and comprehensive review of available literature.

Intra-abdominal desmoid tumor mimicking gastric cancer recurrence: a case report.

Intra-abdominal desmoid tumors are rare and most often occur in patients with a history of familial adenomatous polyposis, surgery, or pregnancy. We report a case of an intra-abdominal desmoid tumor mimicking the recurrence of gastric cancer. A 57-year-old male had undergone distal gastrectomy for advanced gastric cancer. Serum levels of carcinoembryonic antigen were found to be elevated 27 months after surgery. Computed tomography revealed a 15-mm mass in the mesentery of the transverse colon. In addition, radiotracer fluorodeoxyglucose uptake of the tumor was detected by positron emission tomography. The patient was diagnosed with gastric cancer recurrence, and chemotherapy consisting of cisplatin and S-1 was commenced. After five courses of chemotherapy, although no significant clinical response was seen, no new lesions were seen either. Thus, a curative resection of the recurrent tumor seemed possible, which was successfully performed. Histological examination of the resected specimen revealed spindle-shaped tumor cells with collagen fiber progression; no cancer cells were detected. The tumor was diagnosed as an intra-abdominal desmoid tumor. We report a rare case of an intra-abdominal desmoid tumor that mimicked a recurrent tumor arising from gastric cancer. In patients with history of surgery for intra-abdominal malignancies, it may be difficult to distinguish the recurrence of malignancy from desmoid tumors but the possibility of desmoid tumors must be considered in the differential diagnosis.

Desmoid tumor: analysis of prognostic factors and outcomes in a surgical series.

BACKGROUND: Desmoid tumors are rare and exhibit a highly unpredictable natural history. We sought to analyze prognostic factors associated with recurrence in a large single-institution study of patients with desmoid tumors. METHODS: We performed a retrospective review of 177 patients with desmoid tumor who underwent macroscopically complete surgical resection, with or without the addition of radiotherapy (RT) or systemic therapy, from 1970 to 2009. We examined patterns of presentation, all known risk factors for recurrence, and their association with recurrence-free survival (RFS). RESULTS: Twenty-two patients (12 %) had intra-abdominal desmoid tumors, and 155 (88 %) had extra-abdominal tumors. Patterns of presentation included primary (n = 133, 75 %) and locally recurrent (n = 44, 25 %) disease. Treatment was surgery alone in 125 patients (71 %), surgery and RT in 36 (20 %), and surgery and systemic therapy with or without RT in 20 (11 %). Median follow-up was 40 months. Overall, the local relapse rate was 29 %, and 10-year RFS was 60 %. R0 resection status was the only predictor of freedom from local recurrence on multivariate analysis (odds ratio 0.32; 95 % confidence interval 0.15-0.66; P = 0.002). The selective use of adjuvant RT appeared to improve local control in patients with positive margins. CONCLUSIONS: For patients with desmoid tumors undergoing surgery, wide excision with negative margins should be the goal, but not at the expense of function, as fewer than half of patients with positive margins will experience recurrence.

Familial adenomatous polyposis-related desmoids presenting with air-fluid level: a clinical review and management algorithm.

BACKGROUND: Familial adenomatous polyposis-related desmoid tumors can present with a liquefied center containing gas, accompanied by abdominal pain and sepsis. To date the optimal management of such patients has not been documented. OBJECTIVE: The aim of this study was to review our experience of managing these desmoids grouped together as "intra-abdominal desmoids with air-fluid level" and present a management algorithm. DESIGN: This is a retrospective study of prospectively maintained polyposis registry database. SETTING: This study was conducted at a tertiary referral center specializing in familial adenomatous polyposis and desmoid disease. PATIENTS: Nine patients with intra-abdominal desmoid and air-fluid level were analyzed for the purpose of this study. RESULTS: Two hundred and forty-six patients were identified with desmoid tumor. Of these, a total of 9 patients had an intra-abdominal desmoid with air-fluid level; 7 were women. Age range at diagnosis was 20 to 41 years. The median time from primary surgery to desmoid tumor development was 24 months (range, 0-48 months), and the median time for further progression to air-fluid level was 24 months (range, 0-226 months). Desmoid tumor size ranged from 10 cm to greater than 20 cm in diameter. Two patients were successfully managed with antibiotics alone, and 2 patients were managed with percutaneous drainage and antibiotics. The other 5 patients required surgical intervention involving either excision or drainage with or without proximal defunctioning/exclusion. There was a single 30-day mortality. LIMITATION: This study was limited by the small number of patients. CONCLUSIONS: The majority of intra-abdominal desmoids with an air-fluid level require surgical intervention. Antibiotics and percutaneous drainage are only successful in a limited number of patients. We present our current treatment algorithm based on this experience.

[Mesenterial fibrosis--could it be desmoidi?]. / Fibroosia suoliliepeessä--voisiko olla desmoidi?

Desmoid tumors are rare benign fibrous tumors, which have a tendency to invade locally. A minority of desmoids are mesenterial. The symptoms of mesenterial desmoids are misleading, and diagnosis can be delayed. A complete surgical excision is the preferred treatment, but the mesenterial location of the tumor makes radical surgery complicated. Patients whose tumors are not amenable to surgical treatment, have been treated with antiestrogens, nonsteroidal anti-inflammatorics and various chemotherapeutics. Good responses have been observed with pegylated liposomal doxorubicin. In most cases, the quality of life can be maintained even in incurable situations.

A to Z of desmoid tumors.

OBJECTIVE: The purpose of this article is to illustrate the common locations of desmoid tumors (deep fibromatosis), complications of intra- and extraabdominal desmoids, and treatment-related changes in their imaging appearance. CONCLUSION: Desmoids are locally aggressive fibrous tumors with a tendency to recur. Desmoids can be intraabdominal, in the abdominal wall, or extraabdominal. Complications, such as compression or invasion of adjacent structures, and abscess formation can occur. Treatment options include observation, local treatment (surgery, radiotherapy), or systemic therapy (conventional chemotherapy, molecular targeted agents).

Desmoid tumors: clinical features and treatment options for advanced disease.

Desmoid tumors describe a rare monoclonal, fibroblastic proliferation characterized by a variable and often unpredictable clinical course. Although histologically benign, desmoids are locally invasive and associated with a high local recurrence rate, but lack metastatic potential. On the molecular level, desmoids are characterized by mutations in the ß-catenin gene, CTNNB1, or the adenomatous polyposis coli gene, APC. Proof of a CTNNB1 mutation may be useful when the pathological differential diagnosis is difficult and location might be predictive for disease recurrence. Many issues regarding the optimal treatment of patients with desmoids remain controversial; however, surgery is the therapeutic mainstay, except if mutilating and associated with considerable function loss. Postoperative radiotherapy reduces the local recurrence rate, in cases of involved surgical margins. Because of the heterogeneity of the biological behavior of desmoids, including long periods of stable disease or even spontaneous regression, treatment needs to be individualized to optimize local tumor control and preserve patients' quality of life. Therefore, the application of a multidisciplinary assessment with multimodality treatment forms the basis of care for these patients. Watchful waiting may be the most appropriate management in selected asymptomatic patients. Patients with desmoids located at the mesentery or in the head and neck region could present with life-threatening complications and often need more aggressive treatment. This review describes treatment options and management strategies for patients with desmoid tumors with a focus on advanced disease.

Evaluation of management of desmoid tumours associated with familial adenomatous polyposis in Dutch patients.

BACKGROUND: The optimal treatment of desmoid tumours is controversial. We evaluated desmoid management in Dutch familial adenomatous polyposis (FAP) patients. METHODS: Seventy-eight FAP patients with desmoids were identified from the Dutch Polyposis Registry. Data on desmoid morphology, management, and outcome were analysed retrospectively. Progression-free survival (PFS) rates and final outcome were compared for surgical vs non-surgical treatment, for intra-abdominal and extra-abdominal desmoids separately. Also, pharmacological treatment was evaluated for all desmoids. RESULTS: Median follow-up was 8 years. For intra-abdominal desmoids (n=62), PFS rates at 10 years of follow-up were comparable after surgical and non-surgical treatment (33% and 49%, respectively, P=0.163). None of these desmoids could be removed entirely. Eventually, one fifth died from desmoid disease. Most extra-abdominal and abdominal wall desmoids were treated surgically with a PFS rate of 63% and no deaths from desmoid disease. Comparison between NSAID and anti-estrogen treatment showed comparable outcomes. Four of the 10 patients who received chemotherapy had stabilisation of tumour growth, all after doxorubicin combination therapy. CONCLUSION: For intra-abdominal desmoids, a conservative approach and surgery showed comparable outcomes. For extra-abdominal and abdominal wall desmoids, surgery seemed appropriate. Different pharmacological therapies showed comparable outcomes. If chemotherapy was given for progressively growing intra-abdominal desmoids, most favourable outcomes occurred after combinations including doxorubicin.

The association between Crohn's disease and desmoid tumors: a novel case and review of the literature.

Desmoids are rare tumors resulting from the proliferation of fibroblasts. They occur in association with familial adenomatous polyposis (FAP), but they may also occur in the post-traumatic peri-partum or post-abdominal surgery setting, and a few present spontaneously. Presenting features of desmoids are protean and largely relate to the anatomical area of involvement. We describe a 50 year old male not known to have Crohn's disease and without FAP who presented with multiple desmoids. Investigation of post-operative diarrhea confirmed a diagnosis of Crohn's disease. This is the first report of a male patient, who had never undergone prior abdominal surgery, presenting with Crohn's disease and abdominal desmoid tumors. The reasons why Crohn's disease and desmoids may be associated are explored, focusing particularly on alternations in the fibrogenic cytokine TGF-ß now known to be involved in the pathogenesis of both diseases.