Desmoid fibromatosis-a diagnostic dilemma

Purpose: Desmoid fibromatosis in head and neck is infrequent and poses a significant challenge to the clinicians due to its non-specific characteristics.

Methods: This case report focuses on a 69-year-old male who presented to a tertiary healthcare center in Karnataka, India with a swelling in the oral cavity.

Results: Despite initial suspicions of malignancy based on clinical examination and findings on computed tomography imaging, subsequent histopathology and immunohistochemistry revealed an unexpected finding.

Conclusion: The case highlights the importance of clinical suspicion and histopathological evaluation as well as the need for greater awareness to facilitate early diagnosis and appropriate management of desmoid fibromatosis. We also present a literature review of varied presentations of desmoid tumors afflicting various subsites of the head and neck.

Background: The real-world evidence about the efficacy of cytotoxic chemotherapy in desmoid tumors is still limited. We investigated the efficacy of chemotherapy in the treatment of recurrent or progressive desmoid tumors.

Methods: The patients with desmoid tumors who had received cytotoxic chemotherapy between November 2007 and June 2020 in two tertiary hospitals in Korea were reviewed.

Results: A total of 25 patients were included in the analysis. The most common primary tumor site was the intra-abdominal or pelvic cavity (56%), followed by the trunk and abdominal wall (24%), extremities (16%), and head and neck (4%). Sixty percent of the patients had familial adenomatous polyposis and 76% received doxorubicin plus dacarbazine. The objective response rate and disease control rate was 64% (95% confidence interval [CI]: 40.7-82.8) and 96% (95% CI: 77.2-99.9), respectively. With the median follow-up time of 55 months (95% CI: 41.0-68.2), the 3-year PFS rate was 65% (95% CI: 41.1-80.5), and the 3-year OS rate was 89% (95% CI: 63.8-97.3). Grade 3 or 4 hematologic adverse events were reported in 14 patients, all of which were manageable.

Conclusion: Our real-world evidence suggests that doxorubicin-based cytotoxic chemotherapy can be an effective treatment option for recurrent and progressive desmoid tumors with respect to favorable clinical outcomes.

Keywords: Cytotoxic chemotherapy; Desmoid tumors; Doxorubicin; Familial adenomatous polyposis; Real-world evidence.

Most cases of desmoid-type fibromatosis (DTF) exhibit a mutation in APC or CTNNB1. We report a case of mesenteric DTF in which no mutation in APC or CTNNB1 was found, but a germline variant of uncertain significance (VUS) in RAD51C and a subclonal mutation in MYST3 were identified. Whether these genetic changes are important in DTF in this case, or whether genetically conventional DTF cells were present at a density below detection is unknown; it will be of interest to see results in further studies of wild-type APC/CTNNB1 cases.

Lipoma, the most common mesenchymal tumor, often appears as a slow-growing mass in the musculoskeletal system (MSK). While generally non-invasive, their location can cause symptoms. Desmoid fibromatosis (DF), a rare and locally aggressive neoplasm, poses challenges in MSK system diagnosis and management due to its infiltrative nature. Despite lacking metastatic potential, DF has a high recurrence rate, classifying it as “intermediate, locally aggressive” in the WHO classification. Collaborative efforts among orthopedic surgeons, radiologists, and pathologists are crucial for accurate diagnosis and treatment planning for all tumors of the MSK system. This case report presents the first documented example of a DF within a lipoma, highlighting the challenges of diagnosing and treating musculoskeletal tumors.

Desmoid fibromatosis is an uncommon soft tissue tumor that is locally aggressive and can result in both pain and limited range of motion (ROM). The rehabilitation protocol is designed to promote optimal recovery and functional outcomes by following a phased approach. Initially, the focus is on managing pain and performing passive ROM exercises immediately after surgery. As the weeks progress, the exercises transition to active-assisted and then active ROM exercises. Additionally, strengthening exercises, manual therapy techniques, and functional training are incorporated to improve muscle strength, flexibility, and coordination. The goal of the rehabilitation journey is to ensure a safe return to daily activities while closely monitoring for any signs of recurrence or functional deficits. This comprehensive approach highlights the importance of collaboration between surgical teams, rehabilitation specialists, and patients in order to achieve successful outcomes.

Article in German

A desmoid tumour, also known as aggressive fibrous tumour or desmoid fibromatosis, is a rare, benign tumour originating from connective tissue cells. Desmoid tumours account for approximately 0.03+% of all neoplasms and less than 3+% of all soft tissue tumours. The estimated incidence in the general population is 2 to 4 cases per million people per year [1]. Desmoid tumours are characterised by aggressive growth but typically do not metastasize. They often occur in young adults and preferably affect specific body regions such as the abdomen, shoulder, chest, or extremities. The exact cause of the condition is not fully understood, but genetic changes and hormonal factors may play a role. Symptoms of a desmoid tumour depend on its location and size, with pain, swelling, or restricted movement commonly occurring. A diagnosis is typically made through a tissue sample (biopsy) and imaging techniques such as MRI or CT [2]. To our knowledge, this is the first documented case of recurrence of a desmoid tumour in the scar at the donor site of a latissimus dorsi flap previously used for the reconstruction of desmoid resection in the lower leg.