DIAPH2 gene polymorphisms and laryngeal cancer risk in men.

BACKGROUND: The DIAPH2 gene is one of the genes commonly associated with laryngeal squamous cell carcinoma (LSCC). In our study, we considered the four polymorphisms of this gene, i.e. rs5920828, rs4322175, rs12851931 and rs5921830 as potential genetic risk factors for LSCC. METHODS: We determined the genotyping of the genetic variants of DIAPH2 in 230 male patients with histologically confirmed LSCC compared to the European population. Demographic and environmental exposure data of each subject were examined. To conduct the genetic tests, extraction of total DNA was performed. We genotyped all four variants in each patient and determined their frequencies. RESULTS: In the case of the rs12851931 polymorphism in the DIAPH2 gene, a significant difference was observed in the distribution of the T stage depending on the polymorphism. Heterozygotes were more often associated with T2 stage, while homozygotes were more likely to have higher tumor stages. The rs12851931 homozygotes of DIAPH2 were statistically significantly more prevalent in smokers. The results suggested that rs12851931 polymorphism in DIAPH2 could increase the onset risk of LSCC. CONCLUSIONS: Our results provide further information on the role of the DIAPH2 gene in the pathogenesis of LSCC.

Acoustic outcomes and voice-related quality of life in male-to-female transsexuals undergoing Wendler glottoplasty: a single-centre experience.

INTRODUCTION: Many transsexual women seek to feminise their voice through pitch elevation surgeries so that it becomes congruent with their gender identity. This study aims to determine the safety and effectiveness of Wendler glottoplasty (WG) in vocal feminisation through the assessment of acoustic and aerodynamic parameters of the voice, as well as voice-related quality of life (QoL) in male-to-female transsexuals. MATERIAL AND METHODS: We retrospectively reviewed the medical records of transsexual women who underwent WG for voice feminisation at our institution between 2016 and 2023. All acoustic and aerodynamic analyses, a voice self-assessment, and a videolaryngostroboscopic evaluation were performed in the immediate preoperative period and at the follow-up visit 6 weeks after the procedure. RESULTS: A total of 11 patients with a mean age of 32.73 years were included. After WG, there was a significant fundamental frequency and speaking fundamental frequency increase of 109.64 Hz and 83.48 Hz, respectively (p < 0.001), representing an average rise by 9.71 semitones and 8.36 semitones (STs), respectively. No significant differences were found between the mean pre- and postoperative values of fundamental frequencies, frequency range, upper limit of the frequency range of spoken voice, and maximum phonation time. Contrarily, the mean lower limit of frequency range rose by 75.56 Hz (p < 0.001), representing an average increase of 10.56 STs. None of the assessed spirometric parameters changed significantly after WG (p > 0.05). The mean overall Voice Handicap Index (VHI) and Voice-Related Quality of Life (V-RQOL) scores significantly improved after the surgery, decreasing by 24.54 points (p = 0.008) and 11.5 points (p = 0.001), respectively. A significant improvement was observed in the functional and emotional domains of VHI. Additionally, significantly fewer patients considered the overall quality of their voice to be "poor" after WG. CONCLUSIONS: WG constitutes an effective method of surgical voice feminisation in male-to-female transsexuals with concurrent improvement in their voice-related QoL. Furthermore, it remains a safe procedure without persistent complications and negative influence on the acoustic-aerodynamic measures of the voice.

Sequencing Analysis of MUC6 and MUC16 Gene Fragments in Patients with Oropharyngeal Squamous Cell Carcinoma Reveals Novel Mutations: A Preliminary Study.

The growing incidence of oropharyngeal squamous cell carcinoma (OPSCC) calls for better understanding of the mutational landscape of such cases. Mucins (MUCs) are multifunctional glycoproteins expressed by the epithelial cells and may be associated with the epithelial tumour invasion and progression. The present study aimed at the analysis of the sequence of selected MUC6 and MUC16 gene fragments in the tumour, as well as the margin, samples obtained from 18 OPSCC patients. Possible associations between the detected mutations and the clinicopathological and demographic characteristics of the study group were analysed. Sanger sequencing and bioinformatic data analysis of the selected MUC6 and MUC16 cDNA fragments were performed. Our study found 13 and 3 mutations in MUC6 and MUC16, respectively. In particular, one novelty variant found that the MUC6 gene (chr11:1018257 A>T) was the most frequent across our cohort, in both the tumour and the margin samples, and was then classified as a high impact, stop-gain mutation. The current study found novel mutations in MUC6 and MUC16 providing new insight into the genetic alternation in mucin genes among the OPSCC patients. Further studies, including larger cohorts, are recommended to recognise the pattern in which the mutations affect oropharyngeal carcinogenesis.

DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.

AIM, DIAPH2, PTPRD and HIC1 are the cell glycoprotein, which play an important role in the occurrence and development of tumors. This study was designed to assess the association between DIAPH2, PTPRD and HIC1 SNPs and laryngeal cancer risk. PATIENTS AND METHODS: This study including 267 patients with histologically confirmed laryngeal cancer and 157 controls. The relationship between genetic variations DIAPH2 (rs6620138), PTPRD (rs3765142) and HIC1 (rs9901806) and the onset of laryngeal cancer were investigated. Statistical analysis to calculate the relationship between DIAPH2, PTPRD and HIC1 genes polymorphism and pathogenesis of laryngeal cancer. RESULTS: The results showed that rs6620138 DIAPH2 polymorphism could increase the onset risk of laryngeal cancer. Statistically significant differences in allele distribution of rs6620138 DIAPH2 and rs9901806 HIC1 in the case and control groups subgroups. CONCLUSIONS: This study results suggested that genetic variation of rs6620138 DIAPH2 polymorphism is related to the susceptibility to laryngeal cancer. Our results provide a basis to begin basic research on the role of DIAPH2 gene in the pathogenesis of laryngeal cancer.