Mesenteric desmoid tumour presenting with recurrent abdominal abscess and duodenal fistula: A case report and review of literature.

Desmoid tumors are locally destructive but histologically benign. Their management involves close observation and surgical, medical, or hormonal treatment. A 36-year-old male was admitted for abdominal pain and fever. A CT scan showed fluid collections and air within a mesenteric mass. Diagnostic laparotomy was performed with drainage of the abscess and biopsy of the mass. The pathology suggested a desmoid tumor. His fever and abdominal pain persisted. An endoscopy was performed, which demonstrated a fistula track in the third part of the duodenum. After a multidisciplinary discussion, consensus was to pursue surgical intervention. The patient underwent an en bloc resection of the tumor including a portion of the wall of the third part of the duodenum. The final pathology confirmed a desmoid tumor with a fistula track to the duodenum. The patient had a re-laparotomy on POD2 for intra-abdominal bleeding but was discharged without further events on POD7. He had no evidence of recurrence on follow-up at 11 months. Desmoid tumors are rarely complicated by abscess formation or fistulization. The management of intra-abdominal desmoids in this setting is challenging, as patients are often symptomatic and unresponsive to medical management. Percutaneous drainage and antibiotics are often initiated as first-line treatment, followed by surgery or medical therapy after evaluation of resectability and tumor stage. Rare complications can arise with intra-abdominal desmoid tumors. Principles of infection control should be applied in combination with optimization of oncologic outcome. A multidisciplinary approach helps to achieve both these objectives.

DTs can occur sporadically or associated with the familial adenomatous polyposis coli (FAP). Most sporadic DTs are associated with β-catenin gene (CTNNB1) mutations, while mutated APC gene causes FAP disease. microRNAs (miRNAs) are involved in many human carcinogenesis.

Desmoid-type fibromatosis is a rare disease of which 7.5-16% have been reported to be related to familial adenomatous polyposis (FAP). We sought to compare the characteristics and treatment of sporadic and FAP-related desmoid-type fibromatoses. The predictors for FAP occurrence among desmoid tumor patients are large tumor size, intra-abdominal location, multiple tumors, and patient’s young age. Desmoid-type fibromatosis patients suffer a high recurrence rate, also among those experiencing sporadic tumors, but the risk of death due to the tumor is low. Conversely, desmoid disease represents a substantial cause of death among FAP patients.

Because of the variable nature of the disease and the potential morbidity of treatment, some cases of DTF may do better without treatment; simple observation is often the best initial treatment. This review used a PubMed search from January 1, 1980, through October 31, 2016, using the terms fibromatosis and desmoid and discusses DTF disease characteristics, pathophysiology, and treatment options as well as examines several cases illustrating key points in the biology and treatment of this heterogeneous disease.

A 59 years old male patient presented with 4 days history of colicky abdominal pain and distension, nausea, vomiting with absolute constipation. Plain abdominal X-ray showed greatly distended colon with air-fluid levels. Abdominal CT-scan revieled complete large bowel obstruction due to external compression and complete occlusion of the rectum by a big well circumscribed mass in the presacral region, occupying the whole true pelvis. The patient underwent emergency laparotomy and a left loop colostomy to relieve the obstruction. Subsequent MRI study revealed a well encapsulated deep supralevator pelvic mass filling the presacral concavity of 13 x10 x 8 cm, causing complete collapse and obstruction of the rectum. The radiologic features suggested a GIST or mesenchymal tumour. During laparotomy, the mass was snuggly filling the true pelvis and was not possible to deliver either from the perineum or the abdominal. After several attempts, it was delivered intact transabdominally by a using baby “delivery forceps”. The patient had an uneventful recovery and his colostomy was later closed. Histopathology showed benign retroperitoneal fibromatosis. In the presence of complete bowel obstruction, the priority in management is first to vent the bowel and relieve the obstruction. Following that, the obstructed mass should be investigated and later excised. Much pathology can present as solid presacral masses like lipoma/liposarcoma, leiomyoma/leiomyosarcoma, fibroma/fibrosarcoma, Desmoid tumors, ganglioneuromas, paragangliomas, and lymphoma. Preoperative diagnosis may be possible by fine needle aspiration cytology or core biopsy.

Intratumoral LTX-315 disintegrates cytoplasmic organelles with release of tumor antigens in preclinical models accompanied by increase in tumor-infiltrating lymphocytes (TILs). LTX-315 induced complete regression in several rodent models, with systemic immune responses. LTX-315 is strongly synergistic preclinically with immune checkpoint inhibitors (ICI). We are conducting a phase 1 trial to evaluate LTX-315 in combination therapy. Patients with advanced metastatic solid tumours received injections of LTX-315 into a single accessible tumour over 6 weeks. Additional injections could be administered thereafter every 2 weeks. Biopsies of injected lesions were taken at baseline, and on treatment. Stable disease (median duration 14 weeks) occurred in 50% of patients as best response (melanoma (4), sarcoma (3), breast (1)). This phase 1 study demonstrates that intratumoural LTX-315 has a manageable safety profile and induces increases in TILs in pre-treated patients. Partial and complete regression was seen in some injected tumours. Evaluation of LTX-315 in combination with ICIs in breast and melanoma is ongoing.