Abdominal Aggressive Fibromatosis: Diagnostic and Therapeutic Features

We hereby attempt to present a series of patients with desmoid tumours and review treatment options and management strategies. Ten tumours occurred in the abdominal wall, five in the mesentery, and one was presacral tumour. The mean diameter of the tumour was 6 cm (range: 2.3-40 cm). Associated Familial Adenomatous Polyposis (FAP) was found in five patients. The margin of surgical resection was healthy in five patients. During follow up period, two patients returned with recurrence of tumours.

Adult intestinal transplantation differs significantly from pediatric intestinal transplantation. While indications have remained largely consistent since 2000, indications for adults have expanded over the last two decades to include motility disorders and desmoid tumors. Overall, outcomes have steadily improved. For adult intestinal transplant candidates, intestinal transplantation remains a mainstay therapy for complicated intestinal failure and is a promising option for other life threatening and debilitating conditions.

Since desmoid tumors (DT) exhibit an unpredictable clinical course, with stabilization and/or spontaneous regression, an initial “wait-and-see” policy is the new standard of care-thus, the actual challenge is to identify early factors of progression. We present a method of detection of CTNNB1 mutations using a targeted digital droplet PCR (ddPCR) on cell-free DNA (cfDNA) extracted from blood samples of 31 DT patients. Furthermore, we analyzed the correlation between DT evolution and plasmatic concentration of total and mutated cfDNA at the time of diagnosis. Our results open the perspective of using cfDNA as a biomarker to predict prognosis at the time of diagnosis and assess tumor dynamics to optimize the treatment strategy.

Electronic databases (2005 to October 2016) were searched. Of 6674 identified articles, 70 were eligible and analyzed, covering 13 types of soft tissue sarcomas (STS). Meta-analyses showed that the test of detecting MDM2 amplification by fluorescence in situ hybridization was accurate in differentiating atypical lipomatous tumor/well-differentiated liposarcoma/dedifferentiated liposarcoma from benign tumors or from other STS; that the test of detecting SS18-SSX fusion by reverse transcription polymerase chain reaction (PCR) was accurate in differentiating synovial sarcoma from other STS. The presence of a CTNNB1 S45F mutation detected by PCR was a risk factor for decreased recurrence-free survival in desmoid tumors. The current evidence demonstrates that molecular analyses are useful in the diagnosis and prediction of prognosis in some STS.

Here we present six sporadic and one familial case of multifocal desmoid tumors. Four female and three male patients, aged between 7 and 30 years (mean 18.4 years) were identified in a cohort of 1392 cases. Tumors were located in (distal) extremities, thorax, breast, abdominal wall, shoulder, and neck. Four cases showed a CTNNB1 mutation and one an APC germline mutation. In two sporadic cases no CTNNB1 mutation was identified. Four patients showed (multiple) recurrences and one patient was lost to follow-up. In conclusion, multifocal desmoid tumors are a very rare disease and may occur in sporadic cases that are characterized by recurrent CTNNB1 mutations. However, the underlying pathogenesis of multifocal desmoid tumors remains poorly understood with often aggressive clinical behavior and challenging therapeutical management.