Treatment of Orbital Desmoid-type Fibromatosis With Sorafenib.

Desmoid-type fibromatosis is a rare tumor, particularly in the orbit, with fewer than 10 cases of primary orbital desmoid-type fibromatosis reported in the literature. The authors present a case of an infant who presented with rapid onset of OD proptosis, disc edema, and hyperopic shift who was found to have a retrobulbar desmoid-type fibromatosis. After initial biopsy, due to risk of vision loss with complete excision, the tumor was treated with sorafenib, a tyrosine kinase inhibitor. During the course of treatment with sorafenib, the tumor stabilized and then regressed in size. To the authors' knowledge, this is the first reported case of orbital desmoid-type fibromatosis to be treated with sorafenib.

Intra-abdominal Desmoid-Type Fibromatosis Mimicking Diverticulitis With Abscess: A Case Report.

BACKGROUND: Intra-abdominal desmoid-type fibromatosis (DF) rarely necessitates emergency surgery. However, the condition is difficult to diagnose preoperatively and can become life-threatening if left untreated. CASE REPORT: A 46-year-old man complained of fever and right lower quadrant pain. In computed tomography, the mesenteric side of the ascending colon demonstrated air and fluid collections, suggesting diverticulitis with abscess. After 2 weeks of conservative treatment with fasting, the patient started to consume food; nonetheless, fever returned. Colonoscopy and contrast enema detected a fistula extending from the ascending colon to the abscess, with no surrounding lesions. Surgery was then performed because the abscess was refractory. During laparotomy, the scar tissue of the abscess was found to be attached to the lateral wall of the ascending colon. Hence, right colectomy combined with abscess resection was performed. Histopathological findings revealed DF in the mesentery. CONCLUSION: Although rare, DF should be included in the preoperative differential diagnosis of intra-abdominal abscesses.

Desmoid fibromatosis through the patients' eyes: time to change the focus and organisation of care?

PURPOSE: Desmoid fibromatosis (DF) is a rare, unpredictable disease with no established, evidence-based treatments. Individual management is based on consensus algorithms. This study aimed to examine the specific health-related quality of life challenges faced by DF patients, current experiences and expectations of care. METHODS: Twenty-seven DF patients were purposively sampled from The Royal Marsden Hospital. Two focus groups and 13 interviews (males 12, females 15; mean age at study 39.5 years) explored health-related quality of life issues and experiences of healthcare. Thematic content was analysed. RESULTS: Discussions revealed four key themes (diagnostic pathway; treatment pathway; living with DF; supportive care). Diagnostic delay resulted from lack of recognition by patients and healthcare professionals. Some patients received an initial diagnosis of cancer, causing significant distress. Treatment decisions were challenging, and patients experienced uncertainty among clinicians about optimal therapies. Side-effects of treatment were severe, including fatigue, nausea, anorexia, low libido and depression. Pain was the most debilitating symptom and dependency on painkillers was a significant concern. Functional limitation and restricted mobility frequently affected daily activities. Patients experienced difficulty accomplishing their role in society; relationship problems, caring for children, employment and financial difficulties. Social isolation and lack of understanding were common. The psychological impact of this "life-changing and life-long" condition was profound. All patients requested knowledgeable healthcare professionals, more information, continuity of care and peer support. CONCLUSIONS: DF patients face complex physical, psychological and practical challenges. Comprehensive care services are needed. Increasing awareness may help to improve diagnostic pathways and overall patient experience.

[Desmoid infantile mandibular fibromatosis]. / Fibromatose desmoïde infantile de la mandibule.

INTRODUCTION: A desmoid tumor, or aggressive fibromatosis, is a benign fibrous tumor with a high potential for locoregional extension. This tumor is very rarely located in the mandible. OBSERVATION: A 2-year-old boy presented with an extensive mandibular desmoid tumor. The diagnosis was proved on histological examination. Two years after surgery, there was no recurrence. DISCUSSION: Aggressive fibromatosis is rarely located in the mandible. The differential diagnosis with malignant tumors is difficult. Surgery is the first-line treatment. However, alternative therapies should be considered, especially in children, to avoid mutilating operations.

Activity of Sorafenib against desmoid tumor/deep fibromatosis.

BACKGROUND: Desmoid tumors (deep fibromatoses) are clonal connective tissue malignancies that do not metastasize, but have a significant risk of local recurrence, and are associated with morbidity and occasionally mortality. Responses of desmoid patients to sorafenib on an expanded access program led us to review our experience. METHODS: After Institutional Review Board (IRB) approval, we reviewed data for 26 patients with desmoid tumors treated with sorafenib. Sorafenib was administered at 400 mg oral daily and adjusted for toxicity. RESULTS: Sorafenib was the first-line therapy in 11/26 patients and the remaining 15/26 had received a median of 2 prior lines of therapy. Twenty-three of 26 patients had shown evidence of progressive disease by imaging, whereas 3 patients had achieved maximum benefit or toxicity with chemotherapy. Sixteen of 22 (∼70%) patients reported significant improvement of symptoms. At a median of 6 months (2-29) of treatment, the best response evaluation criteria in solid tumors (RECIST) 1.1 response included 6/24 (25%) patients with partial response (PR), 17/24 (70%) with stable disease, and 1 with progression and death. Twelve of 13 (92%) patients evaluated by MRI had > 30% decrease in T2 signal intensity, an indirect metric for increased fibrosis and loss of cellularity. Eighty percent of patients with radiological benefit had extra-abdominal desmoids. DISCUSSION: Sorafenib is active against desmoid tumors. A prospective, randomized clinical trial of sorafenib against other active agents is warranted. Loss of MRI T2 signal may be a useful surrogate for defining responses, but requires validation by examination of tumor pathology.

[Chest wall fibromatosis after mammary prosthesis implantation. A case report and review of the literature]. / Fibromatosi del torace dopo impianto di protesi mammaria. Caso clinico e revisione della letteratura.

Desmoid tumour of the breast is a rare lesion. Only 9 cases in which the origin of the tumour was linked to a breast implant had been published up to 2004. We report a case of aggressive fibromatosis which developed on the thoracic wall two years after implantation of a mammary prosthesis. This tumour was locally aggressive. Radical surgery is the treatment of choice and in this case required a wide surgical resection, including removal of the chest wall, to gain control. The application of adjuvant radiation therapy is controversial.