Percutaneous cryoablation for advanced and refractory extra-abdominal desmoid tumors

This retrospective study reviewed 30 consecutive patients with symptomatic desmoid tumors evolving after “wait and watch” periods, and despite medical treatment, treated by percutaneous cryoablation (CA) between 2007 and 2019. Progression free survival (PFS), objective response rate, pain reduction (decreased of visual analogic scale pain (VAS)[Formula: see text] 3 or disappearance of pain), total volume lesion (TVL) and complications were documented. Kaplan Meier method was used to outline PFS. Paired sample t test was used to compare volume of tumors before treatment and at 1 and 3 year. With a median follow-up of 18.5 months (range 6-93 months, interquartile range (IQR): 12-55), the PFS was 85.1% at 1 year and 77.3% at 3 years. Objective response was obtained for 80% of patients with a complete response for 43% patients. Pain reduction was obtained for 96.7% (95% confidence interval (95% CI): 90.3, 100) of patients. Median volume of desmoid tumor before treatment was 124.1cm3 (range 2-1727cm3, IQR: 54-338cm3). Median change of TLV after ablation was 66.6% (95% CI: 37.2, 72.3; p = 0.002) at 1 year and 76.4% (95% CI: 59.1, 89.8; p = 0.002) at 3 year. Adverse events rate was 36.6%, the most common was edema and temporary increase of pain in the days following CA. Four patients experienced a major complication (13.3%): 2 skin necrosis, 1 infection and 1 brachial plexopathy. CA is an effective treatment for advanced and refractory extra-abdominal desmoid tumor, that induces durable responses.

Management of familial adenomatous polyposis (F.A.P.) is guided by the cumulative risk of colorectal cancer (CRC) and aggressive fibromatosis/desmoid (AF/D). The first non-Caucasian FAP cohort with cumulative risk estimates for CRC and AF/D shows distinct differences with the Caucasian and other Asian cohorts. The strong correlation between the adenomatous polyposis coli (APC) mutation location with the FAP phenotype and the geoethnic differences in APC mutation spectrum, genetic constitution, lifestyle and sporadic CRC rates, mandates the use of population-specific cumulative risk estimates for CRC and desmoid for counselling and risk management. On genotype-phenotype correlation in 83 individuals with classical FAP and a confirmed pathogenic/likely Pathogenic (P/LP) APC variant (n=76) or obligate carrier of the family variant (n=7), we observed a high cumulative CRC risk of 40% and 85% by 40 and 60 years, respectively. The observed 30% cumulative risk by 50 years for desmoids was higher than previous European and Asian cohorts and was significantly associated with prophylactic surgery (OR: 4.58, 95% CI 1.06 to 19.78) and APC mutation 3′ of codon 1309 (OR: 13.07, 95% CI 3.58 to 47.56) and also 3′ of codon 1444 (OR: 8.0, 95% CI 1.83 to 34.94). Global cooperation is required to establish FAP genotype-phenotype associations and population-specific risk estimates to guide genetic counselling and risk management.

Historical treatment of desmoid fibromatosis (DF) has consisted primarily of up-front surgery when feasible. In recent years, recognition that DF can spontaneously stabilize or involute has allowed for many patients to be managed with watchful waiting rather than intervention. This review is intended to review recent developments in the treatment of DF. Recent studies have demonstrated prospectively that patients with DF often have improvement in their lesions without intervention, enabling an initial period of surveillance as a standard option for patients with mild symptoms. Given the lengthening list of effective systemic treatments, including sorafenib, pazopanib, and experimental agents, there has been a less reliance on local therapies for those patients who require treatment. For patients with DF that require treatment, there is a growing list of options that includes radiation therapy (RT), percutaneous ablation, and a growing list of systemic agents with favorable toxicity profiles.

This case report presents the radiological, intraoperative and histopathological findings from a 37-year-old female patient that presented with epigastric pain and a palpable mass in the right hemiabdomen. Histological and immunohistochemical examinations of the resected tumour, including positive staining for beta-catenin, confirmed a postoperative diagnosis of desmoid type fibromatosis. This specific case showed that desmoid type fibromatosis of the colon can mimic gastrointestinal stromal tumours (GIST) based on its clinical presentation, computed tomography and magnetic resonance imaging findings. Differential diagnosis between desmoid type fibromatosis and GIST is clinically very important due to the different treatments and follow-up protocols that are implemented for these lesions.

We present a pediatric case of a mediastinal desmoid tumor in which CTNNB1 mutation was detected, a genetic mutation which predicts sensitivity to celecoxib, a COX-2 inhibitor.We present the case of a 6 year old girl with a recurrent mediastinal desmoid tumor.Surgical resection was conducted due to the high risk of hemodynamic impairment.The histopathological study confirmed the diagnosis of desmoid-type fibromatosis.Close follow-up was performed with thoracic MRI, identifying tumor recurrence at 18 and 24 months after diagnosis, which are surgically resected. A somatic mutation in CTNNB1 (c.121A>G; p.T41A) is identified. Target treatment with celecoxib and sorafenib was administered. Secondary effects associated to sorafenib appear and treatment with sorafenib is interrupted. Celecoxib in monotherapy is maintained. After 2 years of treatment, the patient remains in complete remission. The generation of therapeutic guidelines is complex. Spontaneous regression has been described in a 20-30% of the cases, recommending “watch and wait strategies”.In symptomatic cases or with risk of functional impairment, surgical or systemic treatment must be considered. If there is a known molecular target such as CTNNB1,target therapy with NSAIDs (i.e. celecoxib) is recommended. Our case demonstrates the efficacy of celecoxib in monotherapy. The identification of molecular targets through genetic study is highly advisable,especially in unresectable, progressive or recurrent desmoid tumors.Treatment with celecoxib in monotherapy could be a secure and effective therapeutic alternative

Desmoid-type fibromatosis (DTF) is a rare locally aggressive soft tissue neoplasm without metastatic potential. Here, we report a very rare sporadic case of an intracranial supratentorial extradural DTF measuring 82 mm in a 1-year-old girl, that recurred twice following surgery over the course of 16 months, requiring two other surgeries. In three surgeries, we resected a huge tumor with the dura which was thought to be tumor origin and removed this tumor infiltrated the frontal skull base by drilling widely. Furthermore, we treated the tumor invading the bone flap using liquid nitrogen for 20 minutes, and subsequently used it to perform a cranioplasty. This tumor has not recurred for past 8 months. DTF invading the skull base is prone to recurrence, and liquid nitrogen treatment is considered to be effective in pediatric patients, who need cranioplasty with tumor-infiltrating autologous bone flaps.