Genetic Profile of Arteriovenous Anomalies of the Head and Neck: Implications in Progression and Therapeutic Approaches.

BACKGROUND: Arteriovenous Malformations (AVMs) are complex vascular anomalies that are usually sporadic and can have a variable clinical course. Treatment of AVMs can lead to severe sequeale and require thorough decision-making. There is a lack of standardized treatment protocols showing a growing need for pharmacological targeted therapies, specially in the most severe cases where surgery may not be feasible. Current knowledge in molecular pathways and genetic diagnosis have shed light in the pathophysiology of AVMs, opening possibilities for personalized treatment strategies. METHODS: We performed a retrospective review of patients with head and neck AVMs treated in our department between 2003 and 2021 and performed a complete physical examination and imaging with ultrasound and angio-CT or MRI. Patients underwent genetic testing on AVMs' tissue samples and/or peripheral blood samples. Patients were grouped according to the genetic variant and a correlation between phenotype and genotype was studied. RESULTS: 22 patients with head and neck AVMs were included. We found eight patients with varians in MAP2K1, four patients with pathogenic variants in KRAS, six patients with pathogenic variants in RASA1, one patient with a pathogenic variant in BRAF, one patient with a pathogenic variant in NF1, another patient with a pathogenic variant in CELSR1 and one patient with pathogenic variants in PIK3CA and GNA14. Patients with MAP2K1 variants were the biggest group, with a moderate clinical course. Patients with KRAS mutations showed the most aggressive clinical course and a high rate of recurrence and osteolysis. Patients with RASA1 variants showed a characteristic phenotype with an ipsilateral capillary malformation in the neck. CONCLUSION: We found a correlation between genotype and phenotype in this group of patients. The genetic diagnosis of AVMs is recommended in order to stablish a personalized treatment strategy. Targeted therapies are currently being investigated with promising results and may be recommended in addition to conventional surgical or embolization procedures, specially in the most complex cases. LEVEL OF EVIDENCE: Level IV.

Microtia Ear Reconstruction with Patient-Specific 3D Models-A Segmentation Protocol.

(1) Background: In recent years, three-dimensional (3D) templates have replaced traditional two-dimensional (2D) templates as visual guides during intra-operative carving of the autogenous cartilage framework in microtia reconstruction. This study aims to introduce a protocol of the fabrication of patient-specific, 3D printed and sterilizable auricular models for autogenous auricular reconstruction. (2) Methods: The patient's unaffected ear was captured with a high-resolution surface 3D scan (Artec Eva) and post-processed in order to obtain a clean surface model (STL format). In the next step, the ear was digitally mirrored, segmented and separated into its component auricle parts for reconstruction. It was disassembled into helix, antihelix, tragus and base and a physical model was 3D printed for each part. Following this segmentation, the cartilage was carved in the operating room, based on the models. (3) Results: This segmentation technique facilitates the modeling and carving of the scaffold, with adequate height, depth, width and thickness. This reduces both the surgical time and the amount of costal cartilage used. (4) Conclusions: This segmentation technique uses surface scanning and 3D printing to produce sterilizable and patient-specific 3D templates.

Intraoral tumor with rapid growing. Report of a case.

The appearance of an intraoral mass is common in our specialty. Most are benign lesions, but some are primary malignancies. Metastases account for less than 1% of all oral malignancies. An 86 year old woman was referred to our department with a large, asymptomatic, intraoral, fast-growing mass. She had no previous cancer history or other relevant physical findings. The radiology studies showed underlying bone erosion. The histological study showed a metastatic adenocarcinoma with a suspected origin in the abdomen. We were unable to identify it by non invasive diagnostic procedures. Given the patient's general status and despite the ominous prognosis of such lesions, we decided not to perform any aggressive therapy beyond removing the oral mass, in order to maintain her quality of life. There have been no local recurrences until this time.

Chronic lingual ulceration caused by lipoma of the oral cavity. Case report.

Although lipomas are among the most frequent tumors in the human body, their presentation in the oral cavity is not common. Oral cavity lipomas usually show a slow painless and assymptomatic growing. When these tumors reach big sizes, they can cause compressive symptons and deformities. In this paper we present the case of a patient in whom oral lipoma was the final finding in the differential diagnosis of a chronic mucosal ulcer. CT scan and MRI images and microscopical examination after fine-needle aspiration were the clue for the final diagnosis. The surgical excision of the tumor was the basis for the healing of the ulcer. We also review the most relevant and recent literature about clinic, diagnosis and treatment for these tumors.

Long term results of reconstruction plates in lateral mandibular defects. Revision of nine cases.

OBJECTIVE: Although microsurgical bone transplant is still the gold standard, mandibular reconstruction plates (MRP) were for several years considered a fast and safe way to restore mandibular continuity without using a bone graft. New plate designs with locking screws have been recently introduced, and these may overcome some of the complications related to previous designs. We review the results of mandibular reconstruction plates in our institution from 1991 to 1995. METHODS: The records of nine cancer patients who underwent lateral mandibular resections (with preservation of both condyle and symphysis) followed by reconstruction with a mandibular reconstruction plate, were retrospectively reviewed. Patients were treated between 1991 and 1995 with regular Synthes and Leibinger plates (without locking screws). Immediately after tumour resection, the bone defect was reconstructed with an MRP without bone grafting. Three cases required soft tissue coverage: two flaps and one buccal fat pad flap. RESULTS: There was immediate orocervical fistula in six cases, one of which required surgical closure; and late complications were common. One patient died due to distant metastasis 13 months after surgery without symptoms related to the plate. The remaining eight patients had their plates removed at between 9 and 52 months after reconstruction, due to screw loosening (four cases), plate exposure (one case), or both (three cases). CONCLUSION: Lateral mandibular reconstruction with non-locking screws and regular profile plates is no longer recommended. New plates with improved designs are currently available. Their low profile and locking screws are the usual characteristics of these new plates. More clinical experience is necessary before plate reconstruction can be recommended over microvascular bone transfer.