Desmoid Fibromatosis
Conditions
Keywords
Interventional radiology, Electrochemotherapy, Desmoid tumor
Brief summary
The goal of this observational study is to learn about the effects of Electrochemotherapy (ECT) in patients with Desmoid Fibromatosis. The main question it aims to answer is: Is ECT effective in reducing the size of the lesion and improving patients' symptomatology? Patients will be followed with MRI and Quality of Life questionnaires at 3, 6 and 12 months after the intervention.
Detailed description
Desmoid fibromatoses are rare and locally aggressive, characterized histologically by monoclonal myoblasts present in abundant stromal tissue.The current therapeutic strategy has abandoned primary resection, as recurrences after resection are common and often their phenotype is more infiltrative. Nonsurgical approaches remain suboptimal. For asymptomatic disease, current guidelines suggest an initial period of active surveillance. Other minimally invasive local treatments such as cryoablation have been shown to be effective; however, certain patients are not candidates for such treatment because of lesion location/characteristics. An additional minimally invasive treatment with currently little evidence in the literature is arterial embolization. However, this procedure cannot be performed in the case of superficial lesions, nor in the presence of shared vasculature between the lesion and other healthy tissues or organs. In the absence of other treatments in use, electrochemotherapy treatment can be performed, which has proven effective on several other types of soft tissue and bone tumors, malignant or benign, treated at our Institute. Electrochemotherapy is based on the principle whereby reversible electroporation causes the application of short, high-voltage electrical pulses to temporarily align water molecules on the hydrolipid layer of the cell membrane, leading to a reversible local increase in permeability by increasing the intracellular concentration of Bleomycin and its toxicity on tumor cells by a factor of up to several thousand.
Interventions
PROCEDUREElectrochemotherapy with bleomycin
Electrochemotherapy (ECT) with bleomycin is a localized treatment approach used for managing desmoid fibromatosis, a benign but locally aggressive tumor. This technique combines electrical pulses with the administration of bleomycin, a chemotherapeutic agent, to enhance drug uptake into tumor cells. The electrical pulses create temporary pores in the cell membranes, allowing bleomycin to enter more effectively, leading to increased cytotoxicity. ECT is typically performed on patients who have not responded to conventional therapies or for whom surgery is not feasible. ECT can lead to significant tumor shrinkage and improvement in symptoms, making it a promising option in the multidisciplinary management of desmoid fibromatosis.
Sponsors
Istituto Ortopedico Rizzoli
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Symptomatic Desmoid Fibromatosis and in active phase (documented growth at last follow-up) * Patients not eligible for surgery, cryoablation, or embolization * Signature of study-specific informed consent.
Exclusion criteria
* Patients with fibromatosis not in active phase, documented clinically and with imaging investigations (MRI, CT) * Patients with documented active infection * Previous treatment for \< 30 days * Pregnancy and lactation status * Patients of childbearing age without contraceptive use for at least 3 months * Presence of metal synthetic media at the site of treatment * COPD with FiO2 \< 30 mmHg * Impaired renal function with eGFR
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Volume reduction in cm | 1 year | Change of the lesion evaluated with MRI, measuring the diameter of the lesion in cm. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change of pain (VAS score) | 1 year | Clinical assessment regarding pain by Visual Analogue Scale (VAS) score (0-100 mm), in which 0 represents no pain, and 100 represents maximum pain imaginable. |
| Change in quality of life ( EuroQol-5D questionnaire) | 1 year | Clinical assessment regarding quality of life by EuroQol-5D questionnaire. EQ-5D score can range from -0.594 to 1.0. The minimum value represents the worst possible health condition. The maximum value of 1.0 represents the best possible health condition. A value of 1.0 indicates that the patient has no problem in any of the five dimensions assessed by the questionnaire. |
| Feasibility of in vitro viability analysis of biopsy material | 1 year | Evaluation of the feasibility of in vitro viability analysis of biopsy material for culturing explants and stabilizing primary cultures. Success is defined as the establishment of primary culture in 70% of samples. Because desmoid tumors are not aggressive, it may not be easy to maintain them in culture in vitro. |
| Evaluation of the role of inflammatory cytokines | 3 months | Evaluation of the prognostic or predictive role of inflammatory cytokines detected in the blood of patients collected on the day of treatment and after 3 months |
Countries
Italy
Contacts
PRINCIPAL_INVESTIGATORGiancarlo Facchini, Medicine and Surgery
IRCCS Istituto Ortopedico Rizzoli
Outcome results
None listed