A rare case of Desmoplastic Fibroma of the mandible and masticatory muscles

Desmoplastic Fibroma is a rare, slowly progressive, and aggressive benign bone tumour. It is made up of spindle cells with minimal atypia and abundant collagen production. It occurs most commonly in the mandible, followed by the femur and pelvis. However, because it is so rare and presents differently with each patient, the diagnosis and management of these lesions still varies from case to case. We present a case of an otherwise healthy Malaysian Air Force officer who presented with left facial swelling accompanied by severe pain and trismus. Patient was thought to have osteomyelitis of the left mandible based on clinical and radiological findings. However, despite multiple debridement, IV antibiotic therapies, incisional biopsies and radiological investigations, patient’s symptoms persisted. Finally, after 4 years, we landed on a provisional diagnosis of Desmoplastic Fibroma of the mandible bone and the adjacent muscles of mastication. We hope to highlight our experience in the management of this case so it will aid in the betterment of approach in such cases in the future.

Desmoid fibromatosis is a rare, benign, locally aggressive fibroblastic proliferation that may occur in almost any anatomical location. Due to its rarity and unpredictable clinical course, there has not been a standard guideline of treatment. We encountered a case of desmoid fibromatosis in our centre. A young lady previously fit and well was referred for a symptomatic, rapidly growing left sided abdominal mass. Otherwise, she denied any bowel related symptoms or constitutional manifestation. Imaging demonstrated a large well-defined lobulated solid-cystic mass extending from vertebral level T10 to L5, measuring 10.5 cm × 15 cm × 23 cm. The mass was in close proximity with the left adrenal gland, left kidney, pancreas and spleen. Ultrasound guided biopsy interpreted it as a fibroblastic or myelofibroblastic tumour, favouring desmoid fibromatosis. Surgery was then performed where the mass was removed along with the left adrenal gland and kidney. Post-operative care was complicated with pulmonary embolism, hospital-acquired pneumonia and pancreatitis.

Re-expansion pulmonary edema is a potentially life-threatening situation following thoracic surgery of a compromised lung. We report the case of a 24-year-old female scheduled for a resection of a large intrathoracic desmoid tumor that presented with re-expansion pulmonary edema at the conclusion of her surgery and discuss the clinical presentation, mechanism and predictors of this entity and review similar cases reported in the literature.

Background: Desmoid tumor (DT), also known as desmoid-type fibromatosis (DTF) or aggressive fibromatosis (AF) is a rare mesenchymal tumor affecting both children and adults. It is non-metastasis but infiltrative, growing with a high recurrence rate to even cause serious health problems. This study investigates the biology of desmoid tumors through integrated multi-omics studies. Methods: We systematically investigated the clinical data of 98 extra-abdominal cases in our pediatric institute and identified some critical clinical prognostic factors. Moreover, our integrated multi-omics studies (Whole Exome Sequencing, RNA sequencing, and untargeted metabolomics profiling) in the paired PDT tumor/matched normal tissues identified more novel mutations, and potential prognostic markers and therapeutic targets for PDTs. Results: The top mutation genes, such as CTNNB1 (p.T41A and p.S45F) and MUC4 (p.T3775T, p.S3450S, etc.), were observed with a mutation in more than 40% of PDT patients. We also identified a panel of genes that are classed as the FDA-approved drug targets or Wnt/β-catenin signaling pathway-related genes. The integrated analysis identified pathways and key genes/metabolites that may be important for developing potential treatment of PDTs. We also successfully established six primary PDT cell lines for future studies. Conclusions: These studies may promote the development of novel drugs and therapeutic strategies for PDTs.

Deep fibromatosis is a locally aggressive neoplasm commonly involving the extremities. Several authors have described imaging features and complications associated with deep fibromatosis. We present the case of a 33-year-old man who presented with a right gluteal fibrous mass identified on magnetic resonance imaging (MRI), which was associated with a pseudoaneurysm originating from the right superior gluteal artery on serial follow-up with MRI and computed tomography. No intervention was done, and after conservative management, spontaneous thrombosis of the pseudoaneurysm was developed. Such imaging finding is the first report of a spontaneous development of pseudoaneurysm caused by deep fibromatosis, which could be a life-threatening condition and should be considered when dealing with deep fibromatosis and deciding on the appropriate treatment.

Objective: Familial Adenomatous Polyposis is a complex hereditary disease that exposes the carrier to a great risk of Colorectal Cancer (CRC). After prophylactic surgery, intra-abdominal desmoid tumors are known to be one the most important cause of death. Therefore, recognition of increased-risk patients and modification of operative strategy may be crucial. Aim: The objective of this study was to estimate the desmoid tumor risk in relation to various surgical and clinical variables. Methods: Patients who had undergone polyposis since 1958 were included in the study. After exclusion criteria were met, those who had developed desmoid tumors were selected to undergo further evaluation. Results: The study revealed that the risk of developing desmoid tumors was associated with various factors such as sex ratio, colectomy, and reoperations. On the other hand, the type of surgery, family history, and surgical approach did not affect the risk of developing desmoid tumors. The data collected from 146 polyposis patients revealed that 16% had desmoid polyps. The sex ratio was 7:1, and the median age at colectomy was 28.6 years. Family history, multiple abdominal operations, and reoperations were some of the characteristics that were common in desmoid patients. Conclusion: Recognition of clinical (female sex) and surgical (timing of surgery and previous reoperations) data as unfavorable variables associated with greater risk may be useful during the decision-making process.