Neurofibromatosis type 1 (NF1) is an autosomal dominant disease affecting chromosome 17. It is manifested by a neurogenic tumor proliferation that forms cutaneous, subcutaneous or deep neurofibromas.
Neurofibromas can cause functional discomfort, neurogenic pain that is difficult to treat, and severe cosmetic disorders.
Treatment is essentially surgical. It is sometimes a heavy invasive surgery with complicated postoperative follow-up and significant scarring on the aesthetic level. Currently, no systemic treatment has proven its effectiveness in this pathology.
Percutaneous cryotherapy is a cold thermoablation procedure using fine 17 G needles introduced into the lesion after targeting by imaging. This technique is used in the treatment of soft tissue tumors and desmoid tumors.
The treatment of neurofibromas with percutaneous cryotherapy is not well known. Encouraging results (unpublished) have been observed in patients with NF1 treated with cryotherapy at the Léon Bérard Center. The beneficial effect was observed in terms of quality of life (in particular, pain) as well as a decrease in tumor size.
On the basis of this first experience, it appears important to corroborate these preliminary results by a prospective study allowing the use of this technique to treat patients with unresectable or resectable neurofibromas but with mutilating surgery in a NF1 context.
Age ≥18 years;
Patient with neurofibromatosis type 1 according to NIH criteria ;
Patient with a benign neurofibromatous lesion that is painful and/or generates functional discomfort and is unresectable or with unacceptable scarring ;
Neutrophils > 1 G/l in the 14 days prior to inclusion;
Patient treated with concomitant chemotherapy and/or targeted therapies ;
Any contraindication to a percutaneous cryotherapy procedure, including the need for ice formation within 1 cm of the spinal cord, brain or other critical nerve structures, bowel or bladder (unless active or passive thermal protective maneuvers are performed);
Patient with malignant neurofibroma or MPNST ; CT scan without abnormality and if tumor presents a max SUV T/F>1.5 ratio, targeted biopsy is required to confirm benign or malignant histology.
Patient with neurofibroma in areas at risk for neurological sequelae;
Single group
Cryotherapy
DeviceThe cryotherapy treatment lasts approximately 30 minutes during which two 10-minute freezing cycles are performed, separated by a reheating phase. During the freezing phases, the temperature is lowered below -40°C in the ablation zone, a temperature that is lethal for the cells.
To evaluate the impact of percutaneous cryotherapy on physical health-related quality of life (in patients with inoperable (or operable with mutilating surgery) neurofibroma.
Rate of patients with clinically significant improvement in physical health-related quality of life. A patient will be considered successful if an increase of at least 3 points on the global physical score from the SF-36 questionnaire is observed at least once between baseline and 12 months after cryotherapy.
To assess each quality of life dimension of the Short Form-36 (SF-36) questionnaire;
The score for each dimension, the mental global score and the physical global score from the SF-36 questionnaire
To evaluate the tumor response
Local control rate using REiNS and RECIST 1.1 criteria
To evaluate the functional discomfort
Functional discomfort assessed by a Likert scale
To evaluate the patients' pain
Pain assessed by the Brief Pain Inventory-Short Form (BPI-SF) questionnaire
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