SMARCB1-Retained and SMARCB1-Deficient SNUC are Genetically Distinct: A Pilot Study Using RNA Sequencing.

Background Understanding the genetic basis for the molecular classification of sinonasal undifferentiated carcinoma (SNUC) based on SMARCB1 may improve our understating regarding the nature of the disease. The objective of the study was to compare the genetic profile of SMARCB1-retained (SR-SNUC) and SMARCB1-deficient SNUC (SD-SNUC). Methods Formalin-fixed, paraffin-embedded tissue from treatment-naive patients with SNUC were selected. Three cases of SR-SNUC, four cases of SD-SNUC, and four samples of nontumor tissue (control samples) were selected. Ribonucleic acid (RNA) sequencing was performed. Results SR-SNUC had a higher number of variants (1 variant for every 15,000 bases) compared with SD-SNUC (1 variant every 29,000 bases). The ratio of missense to silent mutation ratio was higher for SR-SNUC (0.8) as compared with SD-SNUC (0.7). Approximately 1,500 genes were differentially expressed between SR-SNUC and SD-SNUC. The genes that had a higher expression in SR-SNUC included TPD52L1, B3GNT3, GFY, TJP3, ELL3, CYP4F3, ALDH3B2, CKMT1B, VIPR1, SLC7A5, PPP2R2C, UPK3B, MUC1, ELF5, STY7, and H2AC14. The gene that had a higher expression in SD-SNUC was ZFHX4. Most of these genes were related to either protein translation or immune regulation. The most common ( n = 3, 75%) mechanisms of loss of SMARCB1 gene in SD-SNUC was loss of heterozygosity. Conclusion RNA sequencing is a viable and informative approach for genomic profiling of archival SNUC samples. Both SR-SNUC and SD-SNUC were noted to have distinct genetic profiles underlying the molecular classification of these diseases.

Do Otolaryngology Patients Show Gender Preference When Choosing a Surgeon? — A Quantitative and Qualitative Analysis

Abstract Introduction Otorhinolaryngology has always been considered a gender-neutral specialty, whereas in several other specialties, such as obstetrics, gynecology and urology, gender preference has been consistently shown by patients when choosing their treating surgeon. To date, no study has been performed to analyze whether this practice of gender preference is prevalent in otorhinolaryngology patients too. Objectives To identify if gender preference exists in the field of otorhinolaryngology, specifically in its four subspecialties, namely otology, pediatric otolaryngology, laryngology and head and neck surgery. Methods Patients attending our outpatient department were asked to complete a preformed proforma. The pro forma consisted of two parts, demographic details of the subjects and gender preference in the following subspecialties: otology, pediatric otolaryngology, laryngology and head and neck oncosurgery. Results A total of 1,112 subjects took part in the study, out of which 1,089 subjects were included in the final analysis. Female gender preference was highest in the field of pediatric otolaryngology, while male preference was highest for head and neck oncosurgery. Conclusion Though otorhinolaryngology and head and neck surgery has been considered a gender-neutral field, subspecialties of this field show considerable gender preference.