Recurrent Abdominal Aggressive Fibromatosis with Incapacitating Hip Contracture – A Case Report

Introduction: Aggressive fibromatosis (AF) is a fibroblastic locally aggressive neoplasm arising from the musculoaponeurotic stroma and has no metastatic potential. The high tendency of recurrence despite complete surgical resections makes the management of the condition onerous. It can result in significant morbidity with major functional loss due to the destruction of adjacent vital structures and organs. AF with hip flexion contracture is a very rare occurrence.

Case report: A 20-year-old male presented with recurrent abdominal AF with severe hip flexion contracture and an unresectable tumor. He underwent deformity correction and he maintains the full correction achieved along with very good functional improvement at the end of 4 years.

Conclusion: This case demonstrates that in a case of AF with an unresectable tumor, good functional outcome can be obtained; it can be maintained over the short term following contracture release with soft-tissue coverage surgery along with chemotherapy with sorafenib.

The patient was a 27-year-old man. He was referred to our hospital because he was aware of a mass in his abdomen. An abdominal ultrasound showed a 70-mm mass lesion. Enhanced computed tomography showed a 70-mm mass with well- defined margins and heterogeneous internal enhancement near the proximal jejunum. The patient was diagnosed with a suspected primary submucosal tumor of the duodenum or small intestine, and surgery was planned to diagnose and treat the tumor. The tumor was located in the upper jejunal mesentery, and tumor resection and partial small bowel resection were performed. Histopathological examination revealed proliferation of spindle-shaped cells without karyomitosis, and mixed collagen fibers in the tissue. Immunohistochemistry showed β-catenin(+), SMA(+), AE1/AE3(-), KIT(-), CD34(-), and S-100(-). Based on these findings, we diagnosed primary desmoid fibromatosis of the small intestinal mesentery. In this report, we describe a case of primary desmoid fibromatosis of the small intestinal mesentery with a review of the literature.

We present a unique case of a male patient with a history of gynecomastia, who sought medical evaluation due to the discovery of a palpable left breast mass. Mammography revealed a spiculated mass in the upper quadrant of the left breast at 10-o’clock, and subsequent ultrasound and MRI confirmed its presence. Ultrasound-guided biopsy identified the mass as desmoid fibromatosis. This case highlights the diagnostic challenge posed by desmoid fibromatosis, especially in men, as it can mimic breast cancer both clinically and radiologically. Desmoid fibromatosis, although locally invasive, does not metastasize and necessitates extensive resection due to a high recurrence rate.

Background: Desmoid-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 description: A 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.

Conclusion: Desmoid-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.

Objective: To assess the safety and efficacy of magnetic resonance-guided focused ultrasound (MRgFUS) for the treatment extra-abdominal desmoids.

Methods: A total of 105 patients with desmoid fibromatosis (79 females, 26 males; 35 ± 14 years) were treated with MRgFUS between 2011 and 2021 in three centers. Total and viable tumors were evaluated per patient at last follow-up after treatment. Response and progression-free survival (PFS) were assessed with (modified) response evaluation criteria in solid tumors (RECIST v.1.1 and mRECIST). Change in Numerical Rating Scale (NRS) pain and 36-item Short Form Health Survey (SF-36) scores were compared. Treatment-related adverse events were recorded.

Results: The median initial tumor volume was 114 mL (IQR 314 mL). After MRgFUS, median total and viable tumor volume decreased to 51 mL (95% CI: 30-71 mL, n = 101, p < 0.0001) and 29 mL (95% CI: 17-57 mL, n = 88, p < 0.0001), respectively, at last follow-up (median: 15 months, 95% CI: 11-20 months). Based on total tumor measurements (RECIST), 86% (95% CI: 75-93%) had at least stable disease or better at last follow-up, but 50% (95% CI: 38-62%) of remaining viable nodules (mRECIST) progressed within the tumor. Median PFS was reached at 17 and 13 months for total and viable tumors, respectively. NRS decreased from 6 (IQR 3) to 3 (IQR 4) (p < 0.001). SF-36 scores improved (physical health (41 (IQR 15) to 46 (IQR 12); p = 0.05, and mental health (49 (IQR 17) to 53 (IQR 9); p = 0.02)). Complications occurred in 36%, most commonly 1st/2nd degree skin burns. Conclusion: MRgFUS reduced tumor volume, reduced pain, and improved quality of life in this series of 105 patients with extra-abdominal desmoid fibromatosis. Clinical relevance statement: Imaging-guided ablation is being increasingly used as an alternative to surgery, radiation, and medical therapy for the treatment of desmoid fibromatosis. MR-guided high-intensity focused ultrasound is an incisionless ablation technique that can be used to reduce tumor burden effectively and safely. Key points: • Desmoid fibromatosis was treated with MR-guided high-intensity focused ultrasound in 105 patients. • MR-guided focused ultrasound ablation reduced tumor volume and pain and improved quality of life. • MR-guided focused ultrasound is a treatment option for patients with extra-abdominal desmoid tumors.

Aggressive fibromatosis (AF), also known as ligamentoid fibromatosis and desmoid tumor, is a fibroblast clonoproliferative lesion located in the deep soft tissue. The present study reports the case of a 36-year-old female with AF who underwent cervical spinal cord ependymoma surgery. AF developed in the soft tissue of the neck adjacent to the incision site. The size of the neck AF increased rapidly over 2 years, and due to discomfort, the patient underwent initial surgical resection without any other combined treatment methods. When the patient was routinely reviewed at 6 months post-surgery, a recurrence of AF of the neck was found. The patient was recommended surgical resection and radiotherapy. This case report should improve the understanding of clinicians with regard to AF, and help the diagnostic process and treatment plan.