Association between recent pregnancy or hormonal contraceptive exposure and outcome of desmoid-type fibromatosis

Background: The role of both hormonal contraception and pregnancy on the outcomes of desmoid-type fibromatosis (DF) is debatable. Materials and methods: In the present study, we selected female patients of childbearing age from the prospective ALTITUDES cohort. The primary study endpoint was event-free survival (EFS), with an event defined as relapse or progression. We estimated the risk of events according to the use of hormonal contraception [estrogen-progestin (EP) and progestin] and pregnancy status using multivariate time-dependent models, controlling for major confounders. Results: A total of 242 patients (median age, 34.7 years) were included in the present study. The abdominal wall was the most common tumor site (51%). Patients were managed by active surveillance (80%) or surgery (20%). Pregnancy occurred within 24 months before, at the time of, and after DF diagnosis in 33%, 5%, and 10% of the cases, respectively. Exposure to hormonal contraception was documented within 24 months before, at the time of, and after diagnosis in 44%, 34%, and 39% of the cases, respectively. The 2-year EFS was 75%. After adjusting for DF location, tumor size, front-line treatment strategy, and hormonal contraception, we observed an increased risk of events occurring at 24 months after pregnancy [hazard ratio (HR) = 2.09, P = 0.018]. We observed no statistically significant association between the risk of events and current EP exposure (HR = 1.28, P = 0.65), recent EP exposure (within 1-24 months, HR = 1.38, P = 0.39), current progestin exposure (HR = 0.81, P = 0.66), or recent progestin exposure (HR = 1.05, P = 0.91). Conclusions: In our study, a recent history of pregnancy was associated with an increased risk of progression/relapse in patients with newly diagnosed DF, whereas hormonal contraception did not demonstrate an association with progression/relapse.

Rationale: Desmoid fibromatosis is a rare benign tumor, but due to its rarity and diverse clinical course, treatment guidelines have not been established. However, since a good prognosis can be expected, an accurate diagnosis and appropriate treatment are required. We describe a rare case of desmoid fibromatosis on young female that presented as huge abdominal mass. Patients concerns: A 28-year-old female with left upper abdominal pain 1 month ago was referred. Diagnoses: Abdominal computed tomography and magnetic resonance imaging revealed a heterogeneous soft tissue mass approximately 29 × 17 cm in size in the left abdomen with abdominal wall invasion and pathological fracture in costochondral junction of the left 8th to 10th ribs. Interventions: Surgical resection was performed. Outcomes: 33 × 23 × 6 cm sized tumorous mass showed proliferation of bland fibromatosis and myofibroblast with nuclear ?-catenin expression on pathological examination. Desmoid fibromatosis arising from intra-abdominal soft tissue with ribs and pericardium invasion was diagnosed. Lessons: The mainstay of treatment of symptomatic desmoid fibromatosis is surgical resection, and in the case of abdominal tumor, it can be more dangerous when it invades adjacent organ. We report a case that required additionally multidisciplinary approach for surgery and postoperative treatment of huge abdominal desmoid tumor which infiltrate bone and pericardium beyond abdominal cavity.

Rationale: Desmoid-type fibromatosis is a rare benign mesenchymal neoplasm. Only 8% of desmoid-type fibromatosis develops in the abdominal cavity. The mesentery is seldom affected and gastrointestinal stromal tumors need to be considered in the differential diagnosis, particularly when imaging examination shows a tumor containing gases in the abdominal cavity. Only a few cases of gas-containing mesenteric desmoid-type fibromatosis have been reported in the literature. Patient concerns: A 69-year-old male patient presented with hematochezia and intermittent upper abdominal pain. Diagnosis: Contrast-enhanced computed tomography revealed a 3.9 × 3.6 cm gas-containing mass infiltrating the third portion of the duodenum. The tumor was heterogeneous, with cysts and air bubbles. It showed heterogeneous weak-to-mild enhancement in the solid part. Postoperative pathological examination confirmed a final diagnosis of mesenteric desmoid-type fibromatosis. Interventions: The patient underwent surgical resection of intra-abdominal lesion. Outcomes: No evidence of local recurrence was noted during the 6 months of follow-up. Lessons: Accurate preoperative diagnosis is difficult for an intra-abdominal gas-containing mass on computed tomography scan. The appearance of spiculated infiltrative margin suggests the diagnosis of desmoid-type fibromatosis. Further investigation of imaging evidence and treatment methods is necessary.

Introduction: Aggressive fibromatosis, also known as desmoid tumour (DT), is a locally invasive soft tissue malignancy originating from fascial planes, connective tissue, and musculoaponeurotic structures of the muscles. The symptoms greatly depend on the location and size of the tumour. Case report: A 68-year-old male patient without any comorbidities with a large, palpable mass in the abdomen underwent computed tomography (CT) of the abdomen during diagnostic examination in September 2017 in another centre. The CT scan revealed a giant intraperitoneal 30×40cm tumour without signs of infiltrating the surrounding organs and large vessels. The tumour biopsy revealed an aggressive DT. The patient was scheduled for tumour resection. Midline laparotomy was performed in the supine position under general anaesthesia. After gaining access to the abdominal cavity, 8 litres of clear ascites were evacuated. The tumour was not attached to the abdominal wall. Large omentum was freed from the DT. The perioperative finding confirmed the CT images of DT encapsulation of the medial colic artery, part of the small intestine, and transverse colon. The tumour was resected with part of the mesenteric radix, 30 cm of small intestine, and 2/3 of the transverse colon. After the DT was removed entirely, the small intestine was re-anastomosed end to end. The abdominal cavity and the liver were carefully checked for bleeding. The abdominal cavity was closed in a standard manner. Results: The postoperative hospital stay was uneventful. The patient was discharged on the 7th postoperative day with prophylactic low weight molecular heparin for one month. Currently, we have five months of follow-up with no signs of DT recurrence based on CT examination. The histology of the resected tumour confirmed the diagnosis of a desmoid tumour (aggressive abdominal fibromatosis). Conclusion: Desmoid tumours are benign neoplasms with no metastatic potential. However, their treatment is challenging due to their aggressive growth, infiltrative behaviour, and a high tendency to recur.

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Desmoid tumors (DT) are rare fibroblastic, soft-tissue tumors that do not metastasize but can aggressively infiltrate tissues causing significant chronic discomfort and/or functional impairment. In the pediatric population, the incidence of DT is greatest during infancy and adolescence but can occur at any age. Dysregulated ?-catenin, most commonly resulting from mutations in either CTNNB1 or germline APC (adenomatous polyposis coli) drives DT. Most cases are sporadic but some are associated with predisposition syndromes such as familial adenomatous polyposis (F.A.P.). Historically, treatment has been surgery. However, the recurrence rate after surgery can be high. Various systemic cytotoxic chemotherapy regimens used in other soft-tissue sarcomas have been applied to DT with differing results. Given the chronic and rarely life-threatening nature of this disease and the potential short- and long-term toxicity of these regimens, especially in children, alternative non-cytotoxic interventions have been investigated. Molecularly targeted agents such as tyrosine kinase and gamma secretase inhibitors have shown activity against DT. Innovative local control therapies are being employed as alternatives to surgery and radiation. Periods of prolonged stability and spontaneous regression in the absence of therapy in some patients has prompted wider adoption of an upfront active surveillance approach in the appropriate setting. This review will briefly summarize the epidemiology, pathophysiology, and clinical presentation of DT in children, then focus on historical, current, and future pharmacotherapeutic management and finally, propose areas for future study.