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.

Ameloblastic fibroma: a report of 4 clinical cases and review of the literature / Fibroma ameloblástico: reporte de 4 casos clínicos y revisión de la literatura

Introduction: Ameloblastic fibroma is a rare benign mixed odontogenic tumor that usually presents as a painless swelling in young patients. In this article we performed a literature review and present our experience in the management of fibroblastic ameloblastoma in 4 cases. Material and methods: We performed a review of cases published in the literature in PubMed between 2015 and 2022. Regarding our experience, research in the Anatomical Pathology department was done to find cases of ameloblastic fibroma that had been histologically confirmed. Results: The search rendered 29 results, of which only 9 were selected. All articles were single case reports, and most of them were located in the mandible (77,7 %). Most patients underwent enucleation and curettage, and no recurrence were reported by any of the authors. We found 4 cases operated in our department in the last 15 years. Two lesions were located in the maxilla and 2 in the mandible. In all cases, enucleation and curettage was performed, including extraction of the teeth involved, with a very favorable evolution and no recurrences. Discussion: Management can be conservative, performing enucleation and curettage with a very favorable evolution. Variable rates of recurrence have been described and a malignant variant has been identified, so long-term follow-up must be done. In the literature we found only single case reports, with most of the cases presenting in the mandible and undergoing conservative treatment with favorable results. In our series we did not observe recurrences, with good bone regeneration and receiving subsequent orthodontic treatment. (AU)

Introducción: El fibroma ameloblástico es un tumor odontogénico mixto benigno y poco frecuente que generalmente se presenta como un abombamiento indoloro en pacientes jóvenes. En este artículo realizamos una revisión de la literatura y presentamos nuestra experiencia en el manejo del ameloblastoma fibroblástico en 4 casos. Material y métodos: Realizamos una revisión de los casos publicados en la literatura en Pub-Med entre 2015 y 2022. En cuanto a nuestra experiencia, se realizó una búsqueda en el departamento de Anatomía Patológica de los casos de fibroma ameloblástico confirmados histológicamente. Resultados: La búsqueda arrojó 29 resultados, de los cuales solo 9 fueron seleccionados. Todos los artículos fueron reportes de casos únicos, y la mayoría de ellos se localizaron en la mandíbula (77,7 %). La mayoría de los pacientes se sometieron a enucleación y curetaje, y ninguno de los autores informó de recurrencia. Encontramos 4 casos operados en nuestro departamento en los últimos 15 años. Dos lesiones se localizaron en el maxilar y dos en la mandíbula. En todos los casos se realizó enucleación y curetaje, incluyendo exodoncia de los dientes afectados, con evolución muy favorable y sin recidivas. Discusión: El manejo puede ser conservador, realizándose enucleación y curetaje con una evolución muy favorable. Se han descrito tasas variables de recurrencia y se ha identificado una variante maligna, por lo que se debe realizar un seguimiento a largo plazo. En la literatura encontramos solo informes de casos únicos, la mayoría de los casos se presentaron en la mandíbula y se sometieron a un tratamiento conservador con resultados favorables. En nuestra serie no observamos recidivas, con buena regeneración ósea y recibiendo tratamiento de ortodoncia posterior. (AU)

Distracción maxilar con dispositivos internos en pacientes fisurados: Planificación virtual y transferencia de datos al campo quirúrgico / Maxillary distraction with internal devices in cleft patients: virtual planing and transference of dates to surgical field

Objetivo. Los dispositivos internos de distracción maxilar han sido poco utilizados debido a la dificultad que supone su colocación precisa. Esto se debe a que pequeñas imprecisiones en su orientación dan lugar a grandes imprecisiones en la posición final del hueso distraído. En este sentido, la cirugía asistida por ordenador es una herramienta de gran ayuda para alcanzar la máxima precisión. El objetivo de este trabajo es presentar nuestro protocolo de planificación de la posición de distractores internos, así como un nuevo objeto CAD/CAM para transferir los datos al campo quirúrgico. Material y método. Se planifica de forma virtual el avance maxilar de 2 pacientes fisurados y los vectores de movimiento virtual. Para la transferencia de datos al campo quirúrgico se utiliza una férula especial con acoples laterales que orientan el vector de distracción. Resultados. Dos pacientes fueron intervenidos con resultados satisfactorios. Conclusión. Tanto el protocolo de planificación virtual del vector de distracción como el objeto CAD/CAM para transferencia de datos al campo quirúrgico presentado son útiles para aumentar la precisión en la posición final del maxilar. De esta forma el uso de distractores internos para avances menores de 12 mm resulta una técnica predecible (AU)

Objetive. Maxillary internal distractors have not been widely used since the accurate positioning is challenging. This is because a small deviation in the positioning results in a great deviation in the final position of the distracted maxilla. Computer assisted surgery is a powerful tool to reach accurate results. The authors report a protocol for internal distractor positioning as well as a new object for transferring dates from virtual planning to surgical field. Material and method. Virtual planning was performed to plan the maxillary advance in 2 cleft patients. A wafer with 2 lateral attachments was used to transfer the vector of distraction from virtual planning to surgical field. Results. Satisfactory result was achieved in both patients. Conclusion. This virtual planning protocol as well as the CAD/CAM objet to transfer dates from computer to surgical field are useful in order to achieve a suitable final position of the maxilla. These tools facilitate the positioning of internal distractors, leaving the use of external distractors for advancement greater than 12 mm (AU)

Masa intraoral de rápido crecimiento. A propósito de un caso / Intraoral tumor with rapid growing. Report of a case

La aparición de una masa intraoral supone un motivo de consultafrecuente en nuestra especialidad. La mayoría de los casoscorresponden a lesiones benignas y, dentro de las malignas, atumores primarios intraorales. Las metástasis suponen menosdel 1 % de las lesiones malignas.Presentamos el caso de una mujer de 86 años de edad, sin antecedentesoncológicos, que acudió a nuestro servicio presentandouna masa intraoral asintomática, de crecimiento rápido y volumenconsiderable, sin otros hallazgos de interés a la exploración.La lesión se acompañaba de erosión ósea subyacente. Elresultado de la biopsia fue de adenocarcinoma metastático deprobable origen abdominal, si bien el tumor primario no pudoser identificado con las técnicas diagnósticas no invasivas quese llevaron a cabo.Valorando el estado deteriorado de la paciente, así como el malpronóstico de dichas lesiones, se optó por un tratamiento únicamentesintomático, consiguiendo una adecuada calidad de viday sin aparición de recidivas locales en el momento actual

The appearance of an intraoral mass is common in our speciality. Most are benign lesions, but some are primary malignancies.Metastases account for less than 1% of all oral malignances.An 86 year old woman was referred to our department witha large, asymptomatic, intraoral, fast-growing mass. She hadno previous cancer history or other relevant physical findings.The radiology studies showed underlying bone erosion. Thehistological study showed a metastatic adenocarcinoma with asuspected origin in the abdomen. We were unable to identify itby non invasive diagnostic procedures.Given the patient’s general status and despite the ominous prognosisof such lesions, we decided not to perform any aggressivetherapy beyond removing the oral mass, in order to maintainher quality of life. There have been no local recurrences untilthis time

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.

Ulcera crónica lingual inducida por lipoma de la cavidad oral. Caso clínico / Chronic lingual ulceration caused by lipoma of the oral cavity. Case report

Aunque se trata de uno de los tumores benignos más frecuentes del organismo, el hallazgo de lipomas en la cavidad oral es un hecho inusual. En esta localización suelen presentar un crecimiento lento, indoloro y asintomático que puede dar lugar a tumoraciones redondeadas y bien definidas de gran tamaño. En estos casos son frecuentes los síntomas relacionados con la compresión de las estructuras vecinas. En el presente trabajo estudiamos el caso clínico de un paciente en el que el lipoma intraoral fue el hallazgo definitivo tras el diagnostico diferencial exhaustivo de una úlcera crónica de la lengua y del suelo de la boca. La clave para el diagnóstico fueron las pruebas de imagen (TC y RNM) y el estudio citológico mediante punción aspiración con aguja fina. El tratamiento quirúrgico mediante extirpación del lipoma consiguió la curación de la úlcera. Finalmente revisamos la bibliografía pertinente y más actual acerca de la clínica, el diagnostico y el tratamiento de los lipomas de la cavidad oral (AU)

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