Multiple genes and their variants that lend susceptibility to many diseases will play a major role in clinical routine. Genetics-based cost reduction strategies in diagnostic processes are important in the setting of multiple susceptibility genes for a single disease. Head and neck paraganglioma (HNP) is caused by germline mutations of at least three succinate dehydrogenase subunit genes (SDHx). Mutation analysis for all 3 costs fUS$2,700 per patient. Genetic classification is essential for downstream management of the patient and preemptive management of family members. Utilizing HNP as a model, we wanted to determine predictors to prioritize the most heritable clinical presentations and which gene to begin testing in HNP presentations, to reduce costs of genetic screening. Patients were tested for SDHB, SDHC, and SDHD intragenic mutations and large deletions. Clinical parameters were analyzed as potential predictors for
Introduction: Squamous cell carcinomas of the head and neck, including laryngeal cancer, rank sixth in prevalence according to world statistics from developed countries. The role of laryngopharyngeal reflux as one of the risk factors for the development of laryngeal cancer remains controversial and needs further study. Objective: To analyze and compare clinical manifestations and morphological data in patients with laryngeal cancer T1-2N0M0 with LPR. Materials and methods: 87 patients with laryngeal cancer of the I-II stage T1-2N0M0. For the purpose of screening diagnostics of LPR, modified visualanalogue scales RSI and RFS were used,24-hour pH-monitoring was performed. To conduct a histopathological study, samples of surgical material were selected from 8 patients with laryngeal cancer of the I-II stage T1-2N0M0 with LPR; 8 patients with laryngeal cancer – without LPR and 8 patients with benign neoplasms of the larynx with LPR. Results: When analyzing the results of the examination, the RSI index exceeded “9” in 39 (44.8%) patients. According to 24-hour pH monitoring, the presence of LPR was diagnosed in 32 (36.8%) examined patients with morphologically verified squamous cell carcinoma of the larynx, which made up the study group. In 6 (75.0%) patients from the comparison group, areas covered by stratified squamous epithelium were determined within the mucous membrane, in 5 (62.5%) patients, transition zones containing both stratified squamous and single-layered multilayer ciliated were determined epithelium. The nature and intensity of lymphohistiocytic infiltration was more expressed in patients with associated LPR.
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