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Background: Treatment of oropharyngolaryngeal venous malformations (VMs) remains challenging. This study evaluated the effectiveness and safety of fluoroscopy- and endoscopy-guided transoral sclerotherapy for oropharyngolaryngeal VMs in a hybrid operation room (OR). Methods: Patients with oropharyngolaryngeal VMs who underwent transoral sclerotherapy in a hybrid OR were enrolled. Results: Fourteen patients (six females, eight males; median age of 26 years; range, 4–71 years) were analyzed. The symptoms observed were breathing difficulties (n = 3), snoring (n = 2), sleep apnea (n = 1), and swallowing difficulties (n = 1). Lesions were extensive in the face and neck (n = 9) and limited in the oropharyngolarynx (n = 5). A permanent tracheostomy was performed on two patients, while a temporary tracheostomy was performed on five patients. The treated regions were the soft palate (n = 8), pharynx (n = 7), base of the tongue (n = 4), and epiglottis (n = 1). The median number of sclerotherapy sessions was 2.5 (range, 1–9). The median follow-up duration was 81 months (range, 6–141). Treatment outcomes were graded as excellent (n = 2), good (n = 7), or fair (n = 5). The post-treatment complication was bleeding (n = 1), resulting in an urgent tracheostomy. Conclusions: Fluoroscopy- and endoscopy-guided transoral sclerotherapy in a hybrid OR can be effective and safe for oropharyngolaryngeal VMs. [ABSTRACT FROM AUTHOR]

Several different nosological classifications have been used over time for vascular malformations (VMs) since clinical and pathological signs are largely overlapping. In a large proportion of cases, VMs are generated by somatic mosaicism in key genes, belonging to a few different molecular pathways. Therefore, molecular characterization may help in the understanding of the biological mechanisms related to the development of pathology. Tissue biopsy is not routinely included in the diagnostic path because of the need for fresh tissue specimens and the risk of bleeding. Bypassing the need for bioptic samples, we took advantage of the possibility of isolating cell-free DNA likely released by the affected tissues, to molecularly characterize 53 patients by cfDNA-NGS liquid biopsy. We found a good match between the identified variant and the clinical presentation. PIK3CA variants were found in 67% of Klippel Trenaunay Syndrome individuals; KRAS variants in 60% of arteriovenous malformations; MET was mutated in 75% of lymphovenous malformations. Our results demonstrate the power of cfDNA-NGS liquid biopsy in VMs clinical classification, diagnosis, and treatment. Indeed, tailored repurposing of pre-existing cancer drugs, such as PIK3CA, KRAS, and MET inhibitors, can be envisaged as adjuvant treatment, in addition to surgery and/or endovascular treatment, in the above-defined VMs categories, respectively. [ABSTRACT FROM AUTHOR]

Percutaneous sclerotherapy is used to treat venous and lymphatic vascular malformations, which can cause significant discomfort and/or disfigurement. The purpose of this study is to describe the bleomycin sclerotherapy technique and to evaluate its clinical and radiological efficacy and safety. We retrospectively identified consecutive patients with venous malformations (VMs) and lymphatic malformations (LMs) who underwent bleomycin sclerotherapy in 2011–2020 at our institution. We collected the clinical and radiological success rates, complications and recurrences separately in the VM and LM groups. We identified 26 patients, 15 with VMs and 11 with LMs. The significant volume reductions obtained were 45% in the VM group and 76% in the LM group (p = 0.003 and p = 0.009, respectively). Significant reductions in discomfort/pain and in cosmetic disfigurement were obtained in both groups. An overall improvement was reported by 69% and 82% of patients in the VM and LM groups, respectively. No major complications occurred during the mean follow-up of 51 ± 34 months in the VM group and 29 ± 18 months in the LM group. A recurrence developed within 2 years in 23% of patients. Bleomycin is clinically and radiologically effective for the treatment of venous and lymphatic malformations, with a high level of patient safety. [ABSTRACT FROM AUTHOR]