Desmoid Tumours: A single-centre Experience

Objectives: To reveal the main patient and disease characteristics, treatment management and clinical course of desmoid tumours. Methods: Patients with a diagnosis of desmoid tumour were evaluated retrospectively. Results: Of the 11 patients with a median age of 33.0 (12.1-63.1), 7 (63.6%) were female, and 4 (36.4%) were male. Locations were intraabdominal region, abdominal wall, thoracic wall and lower extremity in 5 (45.5%), 4 (36.4%), 1 (9.1%) and 1 (9.1%) patients, respectively. Two patients (18.2%) had a diagnosis of Familial Adenomatous Polyposis (FAP). Pregnancy and cesarean section in 1 (9.1%) and surgical trauma in 2 (18.2%) patients were the etiological factors. The primary treatment of 10 (90.9%) patients was surgery, and 1 (9.1%) patient was radiotherapy (RT). A second surgical intervention was performed in four patients (36.4%) due to recurrence or progression. Three (27.3%) and 5 (45.5%) patients had received RT and systemic treatments, respectively. Mean overall survival was 130.2 ± 25.0 (95% CI, 81.1-179.2) months, and 3 (27.3%) patients died in follow-up. Conclusion: Desmoid tumours can present with very different clinical behaviours among patients. Large-scale studies are needed to determine the biological characteristics of this extremely rare disease, the optimization of treatment options, and the determination of prognostic factors.

Desmoid-type fibromatosis (DF) is a rare soft-tissue tumor demonstrating fibroblastic to myofibroblastic differentiation, recognized as a biologically intermediate, locally aggressive tumor; however, it can be clinically lethal due to its infiltrative growth and risk of locoregional recurrence. Desmoid-type fibromatoses can arise from any part of the body, however, intra-abdominal DFs comprise only 8% of all DFs. We report a case of a male in his 60s who presented with the metachronous occurrence of DF: gastric DF followed by cecal DF with two years of clinical interval. The latter tumor (cecal DF) developed under scheduled postoperative surveillance of laparoscopic gastrectomy. Although a surgical wound is known to be an inductive factor for DFs, the cecal DF developed in a part that was not a surgical site in the previous operation. Curative resection is the first treatment option when the tumor shows progression in size. Following the curative resection, close observation should be provided because of the risk of locoregional recurrence.

Desmoid-type fibromatosis (DF) is a borderline tumor of soft tissues that has low malignant potential but described as infiltrative, locally aggressive and rapidly growing. In the pediatric population, it occurs in the head and neck. Presentation varies based on tumor size and location. Despite the high recurrence rate, surgical excision remains the modality of choice with. Here, we report a case of a 5-month-old boy, with extensive head and neck DF that was managed twice with conservative debulking surgery through a combined transoral-transcervical approach. On 2-year follow-up, he was gaining weight with no developmental delay and had no clinical evidence tumor regrowth.

A 23-year-old Korean female presented epigastric pain of two-months’ duration. She had a laparoscopic ovarian cyst excision 8 months previously. An abdominal computed tomogram (CT) demonstrated a 10-cm solid mass in the distal pancreas, with signs of splenic artery and vein occlusion, gastric and transverse colon invasion. Operative findings showed a mass involving distal pancreas, invasive to the posterior wall of the antrum of the stomach and transverse colon and 4th portion of the duodenum without lymph node involvement. The surgery consisted of a distal pancreatectomy, splenectomy and combined partial resection of the stomach, transverse colon and 4th portion of the duodenum. The immunohistochemistry and histopathological features were consistent with a confirmed diagnosis of intra-abdominal desmoid type fibromatosis (DTF). The prognosis of pancreatic DTF is not known and she showed no recurrence or distant metastasis during a 3 year follow-up. Herein we report a rare case with an isolated, sporadic, and non-trauma-related DTF, located at the pancreatic body and tail.

Current treatment modalities show high levels of recurrence and comorbidities for extra-abdominal desmoids. Cryo-surgery as an alternative was subsequently investigated. In this retrospective, single center study 11 patients showing symptomatic tumors were treated with individualized cryo-surgery. Treatment protocol included preoperative planning using computer rendered 3D models, intraoperative navigation and execution using cone beam guidance, and postoperative magnetic resonance imaging image analysis using a gaussian mixture model software. Subjective outcomes were reported using Short Form Health Survey (SF-36) questionnaires. Conclusion: Cryo-surgery using the three-phase protocol as described may improve the overall outcome of future ablation procedures.

A 22-year-old male was presented with a recurrence of lower abdominal wall mass(LAWM) after multiple operations and a new mass in the skin flap donor area of the right abdominal wall. Magnetic resonance imaging (MRI) revealed multiple soft tissue masses and nodules in the subcutaneous fat layer of the lower abdomen and right abdomen wall. Confirmed diagnosis of desmoid-type fibromatosis in combination with pathological characteristics of the resected specimens. In general, DTF did not have the ability to metastasize, but we extracted paraffin sections and performed full exon sequencing. After personalized analysis, the results showed that there was a possibility of implantative metastasis. Due to the aggressive growth and recurrence of the tumor, the patient was subsequently treated with radiotherapy and no recurrence was observed 6 months later. Continued follow-up is ongoing. We report the first case of DTF that occurs in the superficial layer of fat with the possibility of surgically induced implantative metastasis, for such patients, diagnosis of DTF is more difficult and surgical treatment should be treated with greater caution.