Genetic Susceptibility in Head and Neck Squamous Cell Carcinoma in a Spanish Population.

Despite classical environmental risk factors like tobacco, alcohol or viral infection, not all individuals develop head and neck cancer. Therefore, identification of the genetic susceptibility produced by single nucleotide polymorphisms (SNPs) is an important task. A total of 296 human papillomavirus negative head and neck cancer (HNC) patients (126 laryngeal, 100 pharyngeal and 70 oral cavity) were included in the study, involving 29 candidate SNPs in genes within important carcinogenic pathways (oncogenesis and tumour suppression, DNA repair, inflammation, oxidation and apoptosis). Genotyping was performed using TaqMan probes or restriction fragment length assays in peripheral blood DNA. In addition, 259 paired controls were also evaluated with the same risk factors for each specific location. Nine SNPs in DNA repair (ERCC1 rs11615, ERCC2 rs13181), inflammatory (IL2 rs2069762, IL6 rs1800795), oxidative (NFE2L2 rs13035806 and rs2706110) and apoptotic genes (TP53 rs1042522, MDM2 rs2279744, BCL2 rs2279115) were differently associated with HNSCC susceptibility by location. Some of these SNPs were not described before in this tumour type. In conclusion, we describe several SNPs associated with HNC in a Spanish population.

Analysis of autophagy gene polymorphisms in Spanish patients with head and neck squamous cell carcinoma.

Head and neck squamous cell carcinoma (HNSCC) is the sixth cancer on incidence worldwide. Tobacco and alcohol consumption are the most classical risk factors associated with its development. Autophagy process has a dual effect both in tumourigenesis and tumour suppressing activity. To investigate the importance of this pathway in HNSCC susceptibility, a risk factor matched case-control association study was performed with four candidate polymorphisms in autophagy genes (ATG2B, ATG5, ATG10, ATG16L1). We found an association between the variant in ATG10 rs1864183 and a higher susceptibility to develop laryngeal cancer, ATG2B rs3759601 and pharyngeal cancer and ATG16L1 rs2241880 and oral carcinoma. ATG5 rs2245214 SNP was not associated with any location. Overall, our results indicate the importance of the autophagy pathway in the susceptibility of head and neck squamous cell carcinoma and demonstrate the heterogeneity between its locations encompassed under a single terminology.

Procedimientos para la integración de una Unidad de Voz en el funcionamiento de un Servicio/Área de ORL y sus resultados / Procedures for Integrating a Voice Unit in an ENT area/service and its results

Objetivos(I): Servir de modelo para aquellos Servicios de ORL que se encuentren en proceso de creación de una Unidad de Voz. (II) Exponer los resultados que hemos obtenido en nuestra Unidad de Voz a lo largo de los últimos 12 meses. Material y método: Se desarrollan los apartados: Funciones de la Unidad de Voz; Organización de la Unidad de Voz y Procedimientos de la Unidad de Voz. Se han estudiado 122 pacientes: valoración de autopercepción mediante el Índice de Incapacidad Vocal, categoría diagnóstica, diagnóstico de la Unidad, tratamientos previos y tratamientos propuestos por la Unidad. Resultados: Entre los resultados destacamos: tendencia en las puntuaciones del Voice Handicap Index a valoración leve y moderada; el grupo patológico más frecuente son las lesiones exudativas del espacio de Reinke; la existencia de más de un 50% de discrepancias diagnósticas entre las Consultas de ORL Generales y la Unidad de Voz; la terapia más habitual es el tratamiento logopédico (45%) seguido de la fonocirugía con un 28%. Conclusiones: El objetivo principal de la Unidad de Voz será obtener la máxima efectividad y calidad en sus diferentes funciones. Un diagnóstico y tratamiento correcto aumenta la efectividad y permite un mejor aprovechamiento de los recursos. Para alcanzarlo se requiere un equipamiento mínimo e imprescindible: laringoestroboscopio, protocolo multidimensional y trabajo interdisciplinar (AU)

Objectives(I): To serve as a model for ENT services in the process of creating a Voice Unit and (II) to show the results obtained in our Voice Unit over the past 12 months. Methods: Sections on Voice Unit Functions, Organisation, and Procedures are presented, as well as the study of 122 patients: an assessment of patient self-perception using the Voice Handicap Index, diagnostic category, Voice Unit diagnosis, previous treatments, and treatments proposed by the Unit. Results: The results highlight that Voice Handicap Index scores tend towards mild and moderate evaluations; that the most frequent pathological group are exudative lesions affecting Reinke's space; that there are diagnostic discrepancies of more than 50% between the general ENT consultations and the Voice Unit; and that the most common treatment is speech and language therapy (45%), followed by phonosurgery (28%). Conclusions: The main aim of the Voice Unit is to achieve maximum effectiveness and quality in its various functions. Correct diagnosis and treatment increase effectiveness and allow better use of resources; achieving this requires a minimal, essential setup: laryngostroboscope, a multidimensional protocol and interdisciplinary work (AU)

[Procedures for integrating a voice unit in an ENT area/service and its results]. / Procedimientos para la integración de una Unidad de Voz en el funcionamiento de un Servicio/Área de ORL y sus resultados.

OBJECTIVES: (I) To serve as a model for ENT services in the process of creating a voice unit and (II) to show the results obtained in our Voice Unit over the past 12 months. METHODS: Sections on Voice Unit Functions, Organisation and Procedures are presented, as well as the study of 122 patients: an assessment of patient self-perception using the Voice Handicap Index, diagnostic category, Voice Unit diagnosis, previous treatments and treatments proposed by the Unit. RESULTS: The results highlight that Voice Handicap Index scores tend towards mild and moderate evaluations; that the most frequent pathological group are exudative lesions affecting Reinke's space; that there are diagnostic discrepancies of more than 50% between the general ENT consultations and the Voice Unit; and that the most common treatment is speech and language therapy (45%), followed by phonosurgery (28%). CONCLUSIONS: The main aim of the Voice Unit is to achieve maximum effectiveness and quality in its various functions. Correct diagnosis and treatment increases effectiveness and allows better use of resources; achieving this requires a minimal, essential setup: laryngostroboscope, a multidimensional protocol and interdisciplinary work.