Brake, Daniela A.

ObjectiveThis study describes the prevalence of pathogenic germline variants (PGVs) in head and neck cancer patients, the incremental yield compared to a guideline‐based approach to genetic evaluation, and the uptake of family variant testing.Study DesignProspective cohort study.SettingThree tertiary academic medical centers.MethodsGermline sequencing using an 84‐gene screening platform among unselected head and neck cancer patients who received care at Mayo Clinic Cancer Centers between April 2018 and March 2020.ResultsAmongst 200 patients, the median age was 62.0 years (Q1, Q3: 55, 71), 23.0% were female, 89.0% white/non‐Hispanic, 5.0% Hispanic/Latinx, 6% of another race, and 42.0% had prognostic stage IV disease. The most common subsites were the oropharyngeal (45.0%) and salivary glands (12.0%). The most common histology was squamous cell carcinoma (74.5%). Twenty‐one patients (10.5%) had a total of 22 PGVs; 20 of the 21 patients (95.2%) did not meet criteria for testing by current guidelines. Regarding penetrance of the 22 PGVs, 11 were high or moderate (most commonPMS2orHOXB13), and 11 were low or recessive (most commonMUTYH,WNR, orRECQL4). One patient had a change in care based on an identified PGV. Family variant testing was completed at a rate of 4.8%.ConclusionsUniversal gene panel testing identified a PGV in 10.5% of head and neck cancer patients; almost all would have been missed by current guideline‐based testing. One of 21 patients had a treatment change due to their PGV, indicating that head and neck cancer treatment decisions are not yet widely informed by germline alterations.Level of Evidence3Laryngoscope, 133:3378–3388, 2023

AbstractObjectiveTo determine whether septal perforations have an effect on nasal swell body (NSB) size.Study DesignRetrospective cohort study.SettingTwo tertiary academic medical centers.MethodsComputed tomography maxillofacial scans of 126 patients with septal perforation and 140 control patients from November 2010 to December 2020 were evaluated. Perforation etiology was determined. Measurements included perforation length and height and swell body width, height, and length. Swell body volume was calculated.ResultsThe width and volume of the NSB are significantly smaller in perforation patients when compared to controls. The swell body is significantly smaller and thinner in perforations exceeding 14 mm in height compared to small perforations. Perforation etiology groupings into prior septal surgery, septal trauma, septal inflammatory, and mucosal vasoconstriction categories all demonstrated decreased swell body volume and width compared to controls. Inflammatory etiology had the greatest decrease in swell body size. The hemi‐swell body on the contralateral side of a septal deviation is significantly thicker than the ipsilateral side.ConclusionThe NSB is smaller in patients with septal perforation regardless of perforation size or etiology.

Objective: To compare voice-related outcomes of type 1 thyroplasty using Gore-Tex® between patients with and without augmentation injection laryngoplasty (IL) prior to surgery. Methods: Forty-five patients who underwent Gore-Tex® thyroplasty at a single institution by a single surgeon between November 2016 and February 2019 were identified as those who previously had IL (n = 20) and those without IL (n = 25). Pre- and post-operative voice-related primary outcomes were evaluated using the GRBAS, and CAPE-V auditory-perceptual rating scales and secondary outcome were evaluated using the VRQOL. Pre- and post-operative voice samples were blinded, randomized, and analyzed by 3 voice-specialized speech pathologists to obtain CAPE-V scores. The VRQOL and GRBAS scores were obtained from retrospective chart review. Student’s t test with a paired one-tailed distribution was used for comparisons within groups and 2-sample equal variance for comparisons between groups. Intraclass correlation coefficient determined interrater agreement. Results: GRBAS, and VRQOL significantly improved post Gore-Tex® thyroplasty. There was no difference in improvement between patients who received pre-surgery IL and those who did not in either GRBAS or VRQOL scores, but CAPE-V showed significant improvement in the IL group. A strongly positive correlation was demonstrated between the severity of CAPE-V pre-op score and the overall improvement following surgery for both groups combined. Conclusion: Patients with vocal fold paralysis have a significantly better voice after Gore-Tex® thyroplasty by self-report (VRQOL) and assessment by trained voice professionals (GRBAS). Having IL prior to surgery does not adversely affect later surgical outcomes. This paper represents one of the largest analyses of voice quality outcomes of Gore-Tex® thyroplasty using validated patient scales and randomized blinded analyses.

Perforations of the nasal septum have many etiologies and occasionally result from intranasal medicated spray use. This case report describes a perforation related to the use of desmopressin nasal spray, which has not been previously reported in the literature. Clinical considerations presented in this article include appropriate technique of nasal spray application, appropriate monitoring of patients on intranasal sprays, and indications for evaluation by an otolaryngologist. Septal perforation treatment success is improved with an early diagnosis.