Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.

OBJECTIVE: Neurofibromatosis type 2 (NF2) affects about one in 25,000 to 40,000 people. Most NF2 patients have private loss-of-function mutations scattered along the NF2 gene. Here, we present our NF2 investigation strategy. MATERIAL AND METHODS: We report a comprehensive NF2 mutation analysis of 221 NF2 French patients: 134 unrelated typical NF2 patients fulfilling the Manchester criteria and 87 unrelated patients presenting symptoms that partially fulfilled the Manchester criteria. RESULTS: A NF2 mutation was identified in 56 of the 221 patients, giving a global mutation detection rate of 25%. This rate reached 37% (49/134) for typical NF2 patients fulfilling the Manchester criteria and only 8% (7/87) for patients presenting symptoms suggestive of NF2. Six of these seven patients were under 25 of age. Our approach showed that 77% of NF2 identified variants were detected by coding exons sequencing. Multiplex ligation-dependent probe amplification allowed the identification of restricted rearrangements (23% of NF2 identified variants corresponding to complete deletion or partial deletion/duplication of NF2). CONCLUSION: High mutation detection rate can be achieved if well phenotyped NF2 patients are studied with multiple complementary and optimized techniques. NF2 somatic mosaicism detection was improved by frozen tumor samples molecular analysis.

Efficacy of tobramycin aerosol in nasal polyposis.

CONTEXT: Treatment of infected nasal polyposis. MATERIAL AND METHODS: Multicenter interventional prospective double-blind randomized study with matched groups: treatment with tobramycin aerosol versus isotonic saline aerosol. The study population included 55 patients: 23 receiving isotonic saline aerosol and 32 receiving tobramycin. A novel device (Easynose®) was used with an original principle limiting pulmonary deposition and ensuring homogeneous peripheral deposition in the nasal cavities. OBJECTIVES: The principal objective was to compare bacteriological eradication between tobramycin 150mg/3ml versus isotonic saline, both administered by nebulization via the Easynose® device. RESULTS AND CONCLUSION: Tobramycin aerosol administered via the Easynose® device showed significantly better bacteriological eradication than isotonic saline.

Malignant lacrimal sac tumors.

OBJECTIVES: Lacrimal sac tumors are usually primary and of epithelial origin. Overall, 55% of lacrimal sac tumors are malignant. Mortality rates for malignant tumors depend on tumor stage and type, with a mean rate of 38%. The main objective of this study was to review our experience with these malignancies and to compare this with the published literature. PATIENTS AND METHODS: A 15-year retrospective review of all malignant lacrimal sac tumor patients was completed in our department. Seven patients were found to have malignant sac tumors. The mean age was 53 years (range, 32-74 years) with six women and one man. The patients' clinical records were reviewed for data regarding patient symptoms, preoperative investigations, pathology reports, treatment results, and outcome. These data were compared with the available literature. RESULTS: All patients presented with epiphora and a palpable lump of the internal canthus. In two cases, a history of recurrent dacryocystitis was noted. The histological types were as follows: squamous cell carcinoma (n=5), one case of adenoid cystic carcinoma, and one case of malignant lymphoma. Surgery was performed in six cases with additional radiotherapy in four. One patient was treated exclusively with external radiotherapy. The mean follow-up was 68 months (range, 6-204 months). Two patients developed recurrences: three were disease-free at the time of the study. CONCLUSIONS: Malignant epithelial lacrimal sac tumors are rare cancers with significant recurrence rates. Correct diagnosis and appropriate therapy require a multidisciplinary management approach. Treatment of these malignant epithelial tumors is first and foremost complete surgical removal with wide excision.

Sinonasal mucosal melanomas.

OBJECTIVES: Sinonasal mucosal melanomas account for approximately 1% of all melanomas. These tumors are particularly aggressive, with a recurrence rate between 37 and 54% and a 5-year survival rate between 20 and 46%. Metastases are frequent. The main objective of this study was to analyze all of our cases of sinonasal mucosal melanomas and determine any prognostic factors. PATIENTS AND METHODS: All our cases of sinonasal mucosal melanoma over a period of 10 years were included. Ten cases were analyzed. The mean age was 71 years (range: 61-85 years) for seven women and three men. The clinical, radiological, anatomopathological, and surgical data as well as the characteristics of disease progression were analyzed. These data were compared to those reported in the literature. RESULTS: The mean follow-up was 36.3 months (range: 2-96 months). The 5-year overall survival was 40%. Seven patients developed local recurrences after a mean follow-up of 16 months (range: 2-27 months) with associated metastases in three cases. Analysis of the prognostic factors showed that tumors classified as T1 and limited to the nasal fossae had a better prognosis. CONCLUSION: Sinonasal mucosal melanomas are rare tumors with a high mortality rate. Treatment of these tumors requires extensive surgical treatment associated with external radiotherapy.