Somatic mutational landscape of extracranial arteriovenous malformations and phenotypic correlations.

BACKGROUND: Somatic genetic variants may be the cause of extracranial arteriovenous malformations, but few studies have explored these genetic anomalies, and no genotype-phenotype correlations have been identified. OBJECTIVES: The aim of the study was to characterize the somatic genetic landscape of extracranial arteriovenous malformations and correlate these findings with the phenotypic characteristics of these lesions. METHODS: This study included twenty-three patients with extracranial arteriovenous malformations that were confirmed clinically and treated by surgical resection, and for whom frozen tissue samples were available. Targeted next-generation sequencing analysis of tissues was performed using a gene panel that included vascular disease-related genes and tumour-related genes. RESULTS: We identified a pathogenic variant in 18 out of 23 samples (78.3%). Pathogenic variants were mainly located in MAP2K1 (n = 7) and KRAS (n = 6), and more rarely in BRAF (n = 2) and RASA1 (n = 3). KRAS variants were significantly (P < 0.005) associated with severe extended facial arteriovenous malformations, for which relapse after surgical resection is frequently observed, while MAP2K1 variants were significantly (P < 0.005) associated with less severe, limited arteriovenous malformations located on the lips. CONCLUSIONS: Our study highlights a high prevalence of pathogenic somatic variants, predominantly in MAP2K1 and KRAS, in extracranial arteriovenous malformations. In addition, our study identifies for the first time a correlation between the genotype, clinical severity and angiographic characteristics of extracranial arteriovenous malformations. The RAS/MAPK variants identified in this study are known to be associated with malignant tumours for which targeted therapies have already been developed. Thus, identification of these somatic variants could lead to new therapeutic options to improve the management of patients with extracranial arteriovenous malformations.

Tonsillectomy in children and in adults: changes in practice following the opening of a day-surgery unit with dedicated operating room.

OBJECTIVES: To study the impact of the opening of a day-surgery unit on the practice of tonsillectomy in adults and children in the light of the experience of our department, and to compare complications between day-surgery and conventional admission. MATERIAL AND METHODS: A retrospective review was conducted of all tonsillectomies performed since the opening of a dedicated day-surgery room, using the ENT and emergency department data-bases. RESULTS: Between October 2013 and December 2014, 179 tonsillectomies were performed (51 in adults, 128 in children), including 108 day-surgeries. Between 2012 and 2014, the number of tonsillectomies increased by 12.7%, with an 18.27% increase in children and stable adult rate. Within 1 year, day-surgery became predominant for children (73.19%) and equaled conventional admission for adults (47.22%). For almost all patients without same-day discharge, the reasons were organizational or due to malorientation (comorbidity, or unsuitable home environment). Day-case tonsillectomy in children showed a 30-day complications rate comparable to those reported in the literature (8.3% postoperative hemorrhage), with a higher rate in adults (35.3%). Onset of complications was at a mean 6 days in adults and 9 days in children; only 2 patients developed complications between 6 and 24hours postoperatively. CONCLUSION: The present study showed that opening a day-surgery unit led to changes in practice, with most tonsillectomies now performed on an outpatient basis, without increased complications, and notably immediate complications. Outpatient tonsillectomy thus seems to be a solution of choice compared to conventional admission, in terms of cost saving and of patient comfort, without sacrificing safety. The dedicated operating room facilitates scheduling and thereby increasing turnover by reducing wait time.

Fibula free flap in the treatment of mandibular osteoradionecrosis.

INTRODUCTION: Mandibular osteoradionecrosis (mORN) is one of the major complications of radiation therapy in head and neck cancer. It is responsible for intractable pain and functional problems. Radical treatment, required in case of failure of conservative management, consists in wide resection of the necrotic tissue followed by reconstruction, notably by free flaps. The present study assessed the efficacy of reconstructive surgery by fibula free flap (FFF) in terms of pain, suppuration and functional results. MATERIAL AND METHODS: A retrospective study recruited 5 cases of mORN treated surgically with FFF reconstruction between 2005 and 2012. For each patient, pain, resolution of suppuration, articulation, mastication and swallowing functions and recovery of oral feeding were assessed. RESULTS: The flaps had good vitality in 4 of the 5 patients. Infection and pain resolved in all patients. Functional results were satisfactory in 4 of the 5 cases (80%). There was no recurrence of mORN. CONCLUSIONS: Micro-anastomosed FFF seems to be the method of choice for mandibular reconstruction in advanced mORN. Delayed treatment, however, seems to reduce the chances of good functional results. The precise indications for radical surgery and its timing remain to be defined, but it appears wise to decide on ever earlier radical surgery in the hope of obtaining better functional results.

Criteria for admission of odontogenic infections at high risk of deep neck space infection.

OBJECTIVES: Many patients with odontogenic infections are hospitalised because of the risk of deep neck space infection. The objective of this study was to identify risk factors allowing more reliable selection of patients requiring hospitalisation for both specialists and emergency physicians. MATERIAL AND METHODS: This retrospective study was based on a cohort of 97 patients hospitalised for odontogenic infection in the Department of Otorhinolaryngology and Head and Neck Surgery of Centre hospitalier Sud Francilien, Île-de-France, from January 2008 to June 2012. RESULTS: The majority of patients presented with dental abscess (66 patients; 68%). Nineteen patients (20%) presented with deep neck space infection. The frequency of deep neck space infection was significantly higher in patients with mandibular odontogenic infection (16/55 patients (29%) than in those with maxillary odontogenic infection (3/42 (7%); P ≤ 0.009). The incidence of deep neck space infection was significantly higher in patients with dental abscess (17/66, (26%) than in those without dental abscess (2/31 (6%); P ≤ 0.03). CONCLUSION: In addition to the well-known classical criteria (fever, neck swelling, dyspnoea, dysphagia, trismus, leukocytosis, elevated C reactive protein (CRP)), the criteria for admission for odontogenic infection should include mandibular odontogenic infection and/or the presence of dental abscess.

Management of the neck in the setting of definitive chemoradiation: is there a consensus? A GETTEC study.

BACKGROUND: The management of the neck remains controversial in the definitive chemoradiation setting of advanced N2-3 head and neck squamous cell carcinoma. Most published data favor omission of neck dissection (ND) after complete response for N2-3 or selective ND for residual disease METHODS: We studied the patterns of care in the French-Belgian Groupe d'Etude des Tumeurs de la Tête Et du Cou (GETTEC) through a questionnaire-based survey. RESULTS: Eighteen percent of institutions never performed up-front ND, 20% rarely, 40% sometimes, 14% often, and 8% systematically. Induction chemotherapy was indicated in 30% of the cases, and most ND were performed either between induction and radiation or after chemoradiation for residual disease. Response to chemoradiation was assessed by computed tomographic scan and positron emission tomography in 72% of cases. Selective ND was more common than radical ND. CONCLUSIONS: Omission of ND based on computed tomographic scan and positron emission tomography-based complete response to chemoradiation is the most common strategy for advanced nodal disease among centers. However, neck management strategies vary among institutions, and some institutions continue advocating systematic ND before irradiation. The new treatment options and the changing epidemiology, namely docetaxel-based induction chemotherapy and human papilloma virus-related head and neck squamous cell carcinoma having better response profiles and prognosis, are adding to the nonconsensual approach. The best therapeutic index in terms of neck management remains to be defined in this evolving context.

[Granular cell tumor of the cervical esophagus: a case report]. / Tumeur d'Abrikossof de la bouche oesophagienne.

BACKGROUND: Granular cell tumor of the cervical esophagus is a rare and benign tumor. We present a case of constricting granular cell tumor of the cervical esophagus and discuss esophageal reconstruction. CASE REPORT: Constricting granular cell tumor of the cervical esophagus was diagnosed in a patient who experienced aphagia for two years. Endoscopy demonstrated complete stricture of the cervical esophagus and computed tomography and magnetic resonance imaging confirmed the presence of a tumor formation in the cervical esophagus. Total esophagectomy with preservation of the larynx was performed. DISCUSSION: Surgical treatment raises the problem of esophageal reconstruction (gastric pull up, free flap reconstruction). We used the gastric pull up technique and fashioned a piriform sinus anastomosis. There was no postoperative complication and functional outcome was excellent. CONCLUSION: Computed tomography and magnetic resonance imaging provide essential data on the spread and location of granular cell tumor. Surgery provides excellent functional results.

[Hearing preservation in vestibular schwannoma surgery: indications, techniques and results in the literature since 1990]. / La préservation de l'audition au cours de la chirurgie du neurinome de l'acoustique. Indications, techniques et résultats de la littérature depuis 1990.

Many authors have recently reported hearing preservation for approximately two-thirds of acoustic neuroma patients. The results have driven them to recommend early surgery for all patients whose hearing might be saved. Inversely, other authors advocate that MRI-screening may be beneficial in some patients and suggest surgery only in case of tumor growth or progressive hearing loss. In order to facilitate therapeutic decision making, we reviewed the techniques and results in the main papers dealing with hearing preservation in the course of acoustic neuroma surgery published since 1990. This analysis showed that the average percentage of useful hearing preservation is about 31%. It is however difficult to compare the different series due to the different methodologies used. This emphasizes the need for standardization of hearing selection and reporting criteria to a) identify factors predictive of success (tumor characteristics, preoperative hearing, monitoring, surgical pathways), and b) elaborate well accepted decisional guidelines (early surgery or MRI screening), notably for small and non-symptomatic tumors which show increasing prevalence.

[Interest of free flaps for cranial base reconstruction]. / Intérêt des lambeaux libres dans la reconstruction de la base du crâne.

We describe our experience in treating 7 patients who underwent skull base reconstruction with free flap (6 latissimus dorsi, 1 rectus abdominis) between October 1996 and November 1998. Four patients underwent temporal bone resection with auricular resection, 2 patients underwent anterior and middle cranial fossa resection, 1 patient underwent frontotemporal resection. There have been no failures of the free flaps and one cerebrospinal fluid leak. We advocate free flap reconstruction after temporal bone resection with auricular resection, and after anterior or middle cranial fossa resection when local flap options are not available or with complex dead space.

[Primary synovial sarcoma of head and neck. Materials of The Gustave Roussy Institute. Report of 13 cases]. / Synovialosarcomes cervico-faciaux. Expérience de 1'Institut Gustave Roussy. A propos de 13 cas.

This report presents the result of our experience with 13 primary synovial sarcoma of the head and neck. The 9 males and 4 females had a median age of 32 years. The predominant location of the tumor was the pharynx, treatment consist of surgical excision alone or associated with post-operative radiotherapy or chemotherapy. Mean follow-up was 48 month. Local recurrence occurred in 2 patient, 4 patient died of pulmonary metastasis. The five year survival rate was 55%. Favorable prognostic findings included age < 20 years and complete initial resection.

Long-term follow-up of juvenile nasopharyngeal angiofibromas: analysis of recurrences.

OBJECTIVES: Juvenile nasopharyngeal angiofibroma often recurs if the tumor is large. This report is a long-term follow-up of these cases. It establishes the prognostic values of tumor extensions, analyzes the anatomic factors involved in recurrences, describes the spontaneous evolution of remnants based on a radiographic follow-up, and evaluates the pertinence of complex combined surgical approaches for invasive tumors and the value of complementary endoscopy. STUDY DESIGN: Retrospective review of 44 cases treated between 1985 and 1996. METHODS: Statistical analysis of the correlation between recurrence and tumor extension as evaluated by systematic analysis of 18 putative tumor extensions on preoperative computed tomography scans. RESULTS: Invasion of the skull base affected two-thirds of the patients, and the rate of recurrence was 27.5%. Extensions to the infratemporal fossa, sphenoid sinus, base of pterygoids and clivus, the cavernous sinus (medial), foramen lacerum, and anterior fossa were correlated with more frequent recurrence. Long-term radiographic follow-up revealed putative residual disease in nine asymptomatic patients: these remnants gradually involuted. CONCLUSIONS: The data in the current study emphasize the prognostic value of skull base invasion and the difficulty of complete resection of extended lesions. Tumor remnants detected in symptom-free patients should be kept under surveillance by repeated computed tomography scan, since involution may occur. Recurrent symptoms may be treated by radiotherapy (30 Gy) rather than by extended combined procedures. Endoscopic surgery should be combined with surgery for better control of skull base extensions.

[Microcystic sclerosing adnexal carcinoma: 2 case reports. Diagnostic and therapeutic difficulties]. / Carcinome annexiel sclérosant microkystique. A propos de 2 cas. Problèmes diagnostiques et thérapeutiques.

Microcystic adnexal carcinoma is a recently described malignant neoplasm of adnexal structure. It remains frequently misdiagnosed. These tumors are characterized by their slow progression and by local aggressivity with local recurrences. The best treatment appears to be surgical excision with microscopically controlled margin. We report two cases of microcystic adnexal carcinoma recently observed at Institute Gustave Roussy.

Combined transfacial and neurosurgical approach to malignant tumours of the ethmoid sinus.

In order to understand the risks and benefits of a combined transfacial and neurosurgical procedure for neoplasms of the ethmoid sinus, we reviewed all patients who underwent this surgical approach in our department between 1986 and 1994. The study included 41 patients. Pathological diagnoses included adenocarcinoma (31 patients), squamous cell carcinoma (three patients), aesthesioneuroblastoma (three patients), other (four patients). The overall morbidity rate was 39 per cent, and the post-operative mortality rate was 2.5 per cent. Complications were statistically more likely in patients with bone skull base reconstruction. The main carcinologic failures were local recurrences (24 per cent) and metastases (22 per cent). The one-year, three-year and five-year Kaplan Meir survival rates were respectively 84 per cent, 53 per cent and 36 per cent. In conclusion, the mortality and morbidity were acceptable, especially when no bone skull base reconstruction was performed. Better local control justifies a combined procedure with post-operative radiotherapy when tumours involve or reach the skull base.

[Malignant tumors of the ethmoid sinuses. A homogeneous series of 41 cases operated on by mixed approaches]. / Tumeurs malignes de l'ethmoïde. Série homogène de 41 cas opérés par voie mixte.

A series of 41 malignant tumors including 31 adenocarcinomas invading the ethmoid sinuses were treated by a combined transcranial-transfacial approach. Management, by the same team, of these consecutive cases permitted to analyze the technical problems and the carcinologic results. Chemotherapy was given to 21 patients pre-operative followed by surgical resection by a combined transbasal and paralateronasal routes and then, by a post-operative radiotherapy. Post-operative complications were more frequent (52%) in case of reconstruction of the anterior skull base and especially with madroporic corals. In the other cases where the double dural closure was only packed with abdominal subcutaneous fat, the rate of post-operative problems was only 20%. Noticeably, infection at the cranial base was observed in 6 cases (4 cases needing a reoperation) with bone reconstruction and in none without reconstruction. Actuarial survival rate was 84% at 1 year, 53% at 3 years and 36% at 5 years whatever the pathology (whole series or subgroup of adenocarcinomas). Mortality is related to incidental problems (3 cases), another malignant primary disease (3 cases), metastasis (8 cases) and local recurrence (4 cases). A longer survival was observed in the group of patients without skull base invasion (survival rate 100%, 83%, 50% at 1, 3 and 5 years respectively).

[Osteoma of the naso-sinusal cavities. Surgical indications and role of endonasal endoscopic surgery]. / Ostéomes des cavités naso-sinusiennes. Indications opératoires et place de la chirurgie endonasale endoscopique.

Osteoma of the para-nasal sinuses is a rare and benign tumor that develops slowly. When therapy becomes mandatory, it is necessarily surgical and requires a standard external approach. This report analyses seven cases of operated osteomas, using different surgical techniques, adapted to different indications. Three patients underwent exclusive endonasal endoscopic surgery, and four patients had external surgery coupled with endonasal surgery. Results have proven successful with a four-year median follow-up. Epidemiological, clinical, histological and therapeutic considerations as well as the value of the endoscopic endonasal surgical approach are discussed. Endonasal endoscopic surgery can be used alone in naso-ethmoidal osteomas. It must, though, be associated with external standard procedure when the osteoma involves important extension to the frontal sinuses. In isolated frontal osteomas, external standard approach is mandatory for resection, endonasal technique being in this case contributive to the repermeabilisation of the infundibulum.

[Free bone flaps in esthetic and functional rehabilitation after segmental mandibulectomy. Apropos of 38 cases]. / Apport des lambeaux libres osseux dans la réhabilitation esthétique et fonctionnelle après mandibulectomie interruptrice. A propos de 38 cas.

Development of microvascular free tissue transfers gives the surgeon the opportunity to realise complex reconstructions after segmental mandibular resections for tumor. We reviewed 38 cases of oromandibular reconstruction using various free bone grafts (25 fibula, 7 scapular, 3 iliac and 3 forearm free flaps). The mandibular defect was anterior in 24 cases, lateral in 9 cases and subtotal in 5 cases. In the post-operative course there were two total flap losses. Long-term esthetic results were excellent or good for 82% of the patients, 81% were able to eat a solid or a soft diet. The causes of esthetic or functional failures were studied as well as the specific interest of each donor site. The use of free bone flaps improved cosmetic and functional rehabilitation in cases of anterior mandibular defects. The secondary reconstructions or reconstructions of lateral bony defects were more disappointing. The free fibula flap allows reconstruction of wide bony defects. Scapular flap or forearm flap are indicated for smaller bony defects and in patients with severe peripheral vascular disease.

[Aspergillosis of the sphenoid sinus. Apropos of 4 cases]. / Aspergillose du sinus sphénoïdal. A propos de 4 cas.

Aspergillosis of the sphenoid sinus is a rare entity. The authors report four cases of non invasive aspergillosis sinusitis, three isolated cases and one with nasal polyps. All cases were treated by functional endoscopic surgery. Good results were noted with a mean follow-up of 18 months. Frequency, clinical features, treatment, and etiopathogenesis of sphenoidal aspergillosis are discussed.