Configuration of Primary and Recurrent Aggressive Fibromatosis on Contrast-Enhanced MRI with an Evaluation of Potential Risk Factors for Recurrences in MRI Follow-Up

To analyze the appearance of primary and recurrent aggressive fibromatosis (AF) on MRI with a focus on configuration and to determine potential risk factors for recurrences detected on MRI follow-up scans. From 79 consecutive patients with histologically proven diagnosis of AF, 39 patients underwent a minimum of four 1.5 T MRI follow-up scans after resection of primary AF between 2008 and 2018. The primary and recurrent tumors were radiographically examined for configuration, limitation and extent on MRI. Epidemiological data and loco-regional subcutaneous edema, muscle edema and post-operative seroma were included. The mean age of the patients was 39 ± 2.6 years. Primary and recurrent AF most often occurred in the thigh. The main appearance of primary AF was significantly most often fascicular (p = 0.001-0.01) with heterogeneous and marked contrast enhancement. 21 % (n = 8) of the patients developed recurrences of AF. A fascicular configuration with homogeneous/ heterogeneous contrast enhancement was the main appearance of recurrent AF, but recurrent AF appeared nodular, polycyclic, ovoid or streaky/flat as well. Recurrent AF significantly most often occurred within the first 9 months after primary tumor resection (p = 0.009), especially in patients up to 25 years of age (RR = 6.1; 95 % CI: 1.8-20.9; p = 0.004). The cases of recurrent AF were altogether significantly smaller than the primary tumors (p = 0.001). Post-treatment subcutaneous and muscle edema were present in 77 % and 56 %, respectively. Patients with muscle edema after primary tumor resection had a significantly higher risk for AF recurrences (relative risk ratio (RR) = 1.8; 95 % CI: 1.16-2.8; p = 0.0096). There was no significant difference detected in patients with complete or incomplete resection of the primary tumor. Primary and recurrent aggressive fibromatosis has a mostly fascicular configuration, but may appear ovoid, nodular, streaky/flat or polycyclic as well. High risks for tumor recurrences are detected for patients up to 25 years of age, patients within the first 9 post-operative months and patients with muscle edema after primary tumor resection.

Germline mutations of the APC gene, which encodes a multidomain protein of 2843 amino acid residues, cause familial adenomatous polyposis (FAP). Three FAP clinical variants are correlated with the location of APC mutations: (1) classic FAP with profuse polyposis (>1000 adenomas), associated with mutations from codon 1250 to 1424; (2) attenuated FAP (<100 adenomas), associated with mutations at APC extremities (before codon 157 and after codon 1595); (3) classic FAP with intermediate colonic polyposis (100-1000 adenomas), associated with mutations located in the remaining part of APC. In an effort to decipher the clinical phenotype associated with APC C-terminal germline truncating mutations in patients with FAP, after screening APC mutations in one family whose members (n=4) developed gastric polyposis, colon oligo-polyposis and desmoid tumours, we performed a literature meta-analysis of clinically characterised patients (n=97) harbouring truncating mutations in APC C-terminus. The APC distal mutations identified in this study cluster with a phenotype characterised by colon oligo-polyposis, diffuse gastric polyposis and desmoid tumours. In conclusion, we describe a novel FAP clinical variant, which we propose to refer to as Gastric Polyposis and Desmoid FAP, that may require tailored management.

Between January 2016 and June 2018, 5 patients of large full-thickness abdominal defects were reconstructed with modified pedicled anterolateral thigh (ALT) myocutaneous flaps. There were 3 males and 2 females with an average age of 43.7 years (range, 32-65 years). Histologic diagnosis included desmoid tumor in 3 cases and sarcoma in 2 cases. The size of abdominal wall defect ranged from 20 cm×12 cm to 23 cm×16 cm. Peritoneum continuity was reconstructed with mesh; lateral vastus muscular flap was used to fill the dead space and rebuild the abdominal wall strength; skin grafting was applied on the muscular flap, the rest abdominal wall soft tissue defects were repaired with pedicled ALT flap. The size of lateral vastus muscular flap ranged from 20 cm×12 cm to 23 cm×16 cm, the size of ALT flap ranged from 20 cm×8 cm to 23 cm×10 cm. The donor site was closed directly. All flaps and skin grafts survived totally, and incisions healed by first intention. All patients were followed up 6-36 months (mean, 14.7 months). No tumor recurrence occurred, and abdominal function and appearance were satisfying. No abdominal hernia was noted. Only linear scar left in the donor sites, and the function and appearance were satisfying. Modified pedicled ALT myocutaneous flap is efficient for large full-thickness abdominal defect reconstruction, decrease the donor site morbidity, and improve the donor site and recipient site appearance.

This study presents a case of surgical resection of desmoid type fibromatosis (DF) at brachial plexus, which utilized intraoperative neurophysiological monitoring (INM). During the operation, it was inevitable to sacrifice a superior trunk of brachial plexus due to the tumor infiltration, which was identified by triggered electromyography (EMG) monitoring. The neural injury caused the decrement of motor evoked potential (MEP) amplitude in the right deltoid, biceps, and extensor digitorum communis (EDC) muscles. The postoperative neurological exam, EMG, and nerve conduction studies suggested pan-plexopathy mainly involving superior trunk of brachial plexus. This case demonstrates the usefulness of INM in brachial plexus surgeries.

A 38 years old women referred to our institution complaining of a painful lump in the anterior abdominal wall. She underwent ultrasonography (US), magnetic resonance imaging (MRI) and a computed tomography (CT) biopsy who showed the presence of a desmoid tumour arising in the right abdominal rectus muscle. She underwent surgical excision of the mass and an abdominal wall reconstruction according to the posterior component separation technique, with a large polypropylene mesh reinforcement. The post-operative period was uneventful and at 6 months she shows no clinical nor radiological recurrence. A radical resection with free margins remains the principal determinant of outcome. Non-surgical approaches and adjuvant therapy may be useful for patients with unresectable lesions. The optimal treatment strategy for desmoid tumours still remains unclear. A multidisciplinary approach is always the best strategy to establish the correct treatment.

This article aims to provide an overview of relevant genetic alterations in bone and soft-tissue tumours, which might serve as potential therapeutic targets for personalised medicines in the future. Molecular diagnosis has become an essential tool for the characterisation of bone and soft-tissue tumours. Currently, no targeted therapies are routinely available for bone sarcomas. Denosumab is merely a symptomatic treatment for giant cell tumours of the bone. Imatinib has become the paradigm of a targeted treatment for subgroups of malignant gastrointestinal stromal tumours (GISTs) and dermatofibrosarcoma protuberans. Antiangiogenic multikinase inhibitors, various other tyrosine kinase inhibitors (TKIs) and monoclonal antibodies are currently being evaluated in several (sub-)types of soft-tissue sarcomas. Sorafenib showed promising results in the treatment of aggressive desmoid-type fibromatosis. Histology-tailored chemotherapies did not yield superior results in a prospective randomised multicentre trial. More in-depth knowledge is required for many sarcomas to link their genetic alterations to tumorigenesis in order to develop efficient personalised treatment strategies. Clinical trial designs need to be adapted to evaluate new therapeutic strategies in these ultra-rare tumours and their various sub-types more efficaciously.