Case report: A rare case of desmoid-type fibromatosis originating in the small intestine

BackgroundDesmoid-type fibromatosis (DF) is characterized by a rare monoclonal fibroblast proliferation that exhibits variable and unpredictable clinical presentation. DF can be classified into sporadic and hereditary types. Despite extensive research efforts, the exact etiology of DF remains elusive.Case descriptionA 31-year-old male patient presented to the hospital with a progressively growing mass in the right lower abdomen, accompanied by abdominal discomfort. Symptoms are discovered 1 week before admission. Enteroscopy revealed no evidence of colonic abnormalities, and blood tests did not indicate any abnormalities. Due to the indeterminate nature of the mass during surgery, a partial resection of the ileum and cecum was performed, followed by ileocolonic end-to-end anastomosis, with no postoperative complications. The final pathological diagnosis confirmed primary desmoid-type fibromatosis of the distal ileum (invasive fibromatosis). To effectively manage DF, we recommend a follow-up schedule for patients. This includes appointments every 3 months in the first year following surgery, followed by appointments every 6 months up to the fifth year, and then once a year thereafter. The follow-up examinations should include collection of the patient’s medical history, physical examination, blood tests, ultrasounds, CT scans, and other relevant assessments. During the first year of the follow-up period, no further treatment was administered, and the patient remained disease-free.ConclusionDesmoid-type fibromatosis (DF) originating from the small intestine is an extremely rare condition that exhibits local invasiveness and can be life-threatening. Despite its benign histology, DF has a high local recurrence rate and lacks metastatic potential. Diagnosis of DF remains challenging, especially in cases where surgical intervention is not feasible due to asymptomatic patients or partial organ impairment. In such cases, a “watchful waiting” approach is recommended as the initial treatment strategy. However, when preoperative diagnosis is difficult, surgery is typically considered the best option. Given the potential for local recurrence and the uncertain long-term prognosis, regular follow-up is necessary

Tailoring Desmoid Treatment

Desmoid-type fibromatosis (DF) is a rare disease, also known as aggressive fibromatosis or desmoid tumor. DF is characterized by infiltrative growth with a tendency toward local recurrence but an inability to metastasize. The incidence of DF is low. The pathogenesis of this rare disease is not fully understood. Genetic mutations seem to be major factor, in addition to hormonal influences. The treatment options for DF are dependent on the localization of the tumor. The classical treatment of extra-abdominal and abdominal DF implies primary surgery, with radiotherapy on indication. During the past decade, this advice switched based on accumulating evidence to active surveillance and in case of progressive disease surgery, radiotherapy or systemic treatment based on localization. The natural behavior of DF ranges from spontaneous regression to rapid invasive growth. It is challenging to predict the behavior of a tumor in an individual. This thesis is about tailoring the treatment of DF. Current medical care is patient oriented, with a trend toward individualized treatment strategies. This thesis focusses on changes in epidemiology, treatment modalities and the ability to predict tumor behavior

Radiological, clinical and laboratory based studies in the pathogenesis of desmoid tumours in familial adenomatous polyposis

Around 10% of desmoid tumours (DT) in familial adenomatous polyposis (FAP) patients grow relentlessly, causing major morbidity and mortality. Radiological, clinical or cellular predictors of aggressive DT are yet to be identified. The work described in this dissertation aimed to identify such predictors by radiological studies, and to develop management guidelines and identify possible targets for therapy. Nine FAP patients with DT underwent 64 multi detector computed tomography (64-MDCT), 1.5 Telsa magnetic resonance imaging (1.5T MRI), Diffusion Tensor Imaging (DTI), Dynamic Contrast Enhanced MRI (DCE-MRI) and Fluorine-18 Flurodeoxyglucose Positron Emission Tomography (18F-FDG PET CT). Direct comparision between 1.5T MRI and 64-MDCT found that MRI was at least equivalent to MDCT in the assessment of DT. DTI was feasible and detected an anisotropic diffusion, which was less directional than in muscle. Metabolic (FDG PET) and vascular imaging (DCE-MRI) of DT demonstrated a spectrum of findings and found that DT were generally hypovascular and poorly glucose avid. A review of nine FAP patients with intra-abdominal desmoid (IAD) and air-fluid level (AFL) on cross sectional imaging found that either a direct communication or translocation of microorganism from bowel led to the development of AFL. Some of these patients could be treated successfully with antibiotics and/or a percutaneous drain; however, the majority ultimately required complex surgery. Full sequence APC mutation analysis performed in three primary DT cell lines detected ‘second hit’ somatic mutation in only one, confirming the establishment of a true DT cell line. A study of choline metabolism using choline kinase alpha (CHKA) as a marker for activation, however, failed to demonstrate up regulation of choline metabolism in desmoid tumour cells. Studies of the Wnt signalling pathways confirmed the activation of canonical Wnt signalling in DT. Interestingly Wnt11, a non-canonical Wnt, was also up regulated in DT.Open Acces

Imaging findings after meniscal repair with degradable polyurethane scaffold: preliminary results.

Purpose / Introduction: To date, there are no satisfactory solutions to the meniscal originated knee pain post meniscal tear repair. In this study a newly developed polyurethane material that has the intended properties of reducing pain and inducing tissue growth in a damaged meniscus is tested. Materials and Methods: All patients will be imaged using conventional and dynamic MR imaging techniques at 1 week and 3, 12 and 24 months after surgery. The influx of gadolinium contrast in a tissue during the first three minutes after injection gives a measure of the vascularisation, capillary permeability, perfusion and composition of the interstitial fluid. It can be measured using dynamic MRI and is represented as a Time Intensity Curve (TIC). This curve permits an evaluation of the healing process after surgery. Discussion / Conclusion: Thus far 11 patients have received meniscal implants. Eight medial and three lateral menisci were operated. All implants covered the posterior horn with 3 reaching halfway into the meniscal body and one extending into the anterior horn. The average length of the scaffold meniscus measured on MR imaging was 45mm. In the first week after surgery, the capsule and suture area display fast and intense enhancement typical for post-operative inflammation and the formation of early scar-tissue. There is no enhancement in the base or the tip of the scaffold meniscus. After three months the speed and intensity of enhancement in the capsule and suture area between the remnants of the native meniscus and the scaffold have decreased indicating maturation of scar-tissue. However, the base of the scaffold meniscus now shows enhancement. This can only be explained by proliferation of blood vessels from the capsule and theresidual meniscus wall into the scaffold meniscus. The tip of the matrix shows limited enhancement in some patients after three months. On anatomical MR images, the signal intensity (SI) of the implanted scaffold is close to that of water on both T1- and T2-weighted spin echo and turbo spin echo sequences in the first week. After three months the SI decreases but is still clearly higher than that of the native meniscus. The implants in the posterior horn all had a normal position and no loosening of the sutures or tears of the scaffold were found. After three months, one of the patients had slight expulsion of body of the scaffold meniscus but this is a common finding in transplanted menisci

Retroperitoneal liposarcoma : current insights in diagnosis and treatment

Retroperitoneal liposarcoma (RLS) are rare, biologically heterogeneous tumors that present considerable challenges due to their size and deep location. As a consequence, the majority of patients with high grade RLS will develop locally recurrent disease following surgery, and this constitutes the cause of death in most patients. Here, we review current insights and controversies regarding histology, molecular biology, extent of surgery, (neo)adjuvant treatment, and systemic treatment including novel targeted agents in RLS