Epilepsy in neurofibromatosis type 1: Prevalence, phenotype, and genotype in adults.

PURPOSE: Studies have shown an increased risk of epilepsy in patients with neurofibromatosis type 1 (NF1). However, most reports focus on the pediatric population. In this study, we describe the trajectory of patients with NF1 and epilepsy beyond childhood. METHODS: Patients with NF1 ≥18 years-old consecutively seen at a multidisciplinary neurofibromatosis clinic during a four-year period were prospectively enrolled and offered routine EEG, MRI, and genetic testing. The lifelong and point prevalence of epilepsy in patients with NF1 were calculated. Demographic, genetic, radiological, and clinical features found to be statistically associated with having received a diagnosis of epilepsy were incorporated into a logistic regression model. RESULTS: Among 113 patients with NF1 included in this study (median age at study inclusion: 33 years), the lifelong prevalence of epilepsy was 11% (CI95%=6-18%) and point prevalence 7% (CI95%= 3-13%). Most patients (73%) were diagnosed with epilepsy before the age of 18 and achieved seizure-freedom by adulthood. At study inclusion, three-quarters of patients with a diagnosis of epilepsy had been seizure-free for more than one year and a third had resolved epilepsy. A routine EEG with epileptiform discharges had a sensitivity of 25% (CI95%=3-65) and specificity of 99% (CI95%=93-100) for identifying adult patients with NF1 and unresolved epilepsy. A history of epilepsy was associated with having a low-grade glioma (OR: 38.2; CI95%=2.2-674.7; p<0.01), learning disability (OR: 5.7; CI95%=1.0-31.5; p<0.05), and no plexiform neurofibroma (OR: 0.05; CI95%=0.0-0.8; p=0.04). No single mutation type was associated with the development of epilepsy. CONCLUSIONS: In patients with NF1, although resolution of epilepsy over time was observed in many cases, the prevalence of epilepsy was higher among adults with NF1 than that reported in the general population. Epileptogenesis in NF1 likely requires the combination of multiple genetic and environmental factors and suggests involvement of a network that spreads beyond the borders of a well-defined parenchymal lesion.

Staging cutaneous squamous cell carcinoma metastases to the parotid gland.

OBJECTIVE: The staging of cutaneous squamous cell cancers (cSCC) was revised by the American Joint Committee on Cancer in 2010 to incorporate known prognostic factors and expand the N (node) category. The purpose of this study was to validate this staging system using a North American cohort, and to compare it to the O'Brien P (Parotid) and N staging system. METHODS: An exhaustive collaborative database search was performed for all patients with cSCC metastasis to the parotid gland treated at three major Canadian tertiary referral centers from December 1999 to March 2015. The data collected for each patient included overall survival; disease-free survival; tumor, node, and metastasis) staging; and postoperative radiation status. Post-hoc analysis was completed to discern the strongest prognostic factors of survival as they relate to the abovementioned staging systems. RESULTS: Of 136 patients identified, 80% had a documented history of previously treated head and neck cSCC an average of 27 months prior to presentation. Average size of the parotid lesion at recurrence was 4.5 cm. Ninety-six percent of patients underwent surgical resection of the parotid metastasis. Five-year overall and disease-free survival is 79% and 55%, respectively. Only cSCC staging and cSCC-N category had statistically significant differences between groups. cSCC staging had the largest percentage of variation in overall survival explained. CONCLUSION: Patients with cSCC metastasis to the parotid gland proved to have a moderate survival rate, despite presenting with advanced disease. cSCC staging in the setting of parotid metastasis, despite its limitations, currently offers the most predictive staging system available. LEVEL OF EVIDENCE: 4. Laryngoscope, 127:2063-2069, 2017.

Surgeon-performed ultrasound guided fine-needle aspirate biopsy with report of learning curve; a consecutive case-series study.

BACKGROUND: Fine-needle aspiration biopsy has become the standard of care for the evaluation of thyroid nodules. More recently, the use of ultrasound guided fine-needle aspiration biopsy (UG-FNAB) has improved adequacy of sampling. Now there has been improved access to UG-FNAB as ultrasound technology has become more accessible. Here we review the adequacy rate and learning curve of a single surgeon starting at the adoption of UG-FNAB into surgical practice. METHODS: UG-FNABs performed at Sunnybrook Health Sciences Centre from 2010 to 2015 were reviewed retrospectively. Nodule characteristics were recorded along with cytopathology and final pathology reports. Chi-square analysis, followed by the reporting of odds ratios with confidence intervals, were used to assess the statistical significance and frequencies, respectively, of nodule characteristics amongst both diagnostic and non-diagnostic samples. A multiple regression analysis was conducted to determine if any nodule characteristic were predictive of adequacy of UG-FNABs. The learning curve was assessed by calculating the eventual adequacy rates across each year, and its statistical significance was measured using Fischer's Exact Test. RESULTS: In total 423 biopsies were reviewed in 289 patients. The average nodule size was 23.05 mm. When examining if each patient eventually received a diagnostic UG-FNAB, regardless of the number attempts, adequacy was seen to increase from 70.8% in 2010 to, 81.0% in 2011, 90.3% in 2012, 85.7% in 2013, 89.7% in 2014, and 94.3% in 2015 (Fischer's Exact Test, p = 0.049). Cystic (χ(2) = 19.70, p <0.001) nodules were found to yield higher rates of non-diagnostic samples, and their absence are predictive of obtaining an adequate biopsy as seen in a multiple regression analysis (p < 0.001) Adequacy of repeat biopsies following an initial non-diagnostic sample was 75.0%. CONCLUSIONS: Surgeons are capable of performing UG-FNAB with a learning curve noted to achieve standard adequacy rates. Cystic nodules are shown to yield more non-diagnostic samples in the surgeon's office.