Oncogenic driver mutations predict outcome in a cohort of head and neck squamous cell carcinoma (HNSCC) patients within a clinical trial

234 diagnostic formalin-fixed paraffin-embedded (FFPE) blocks from homogeneously treated patients with locally advanced head and neck squamous cell carcinoma (HNSCC) within a multicentre phase III clinical trial were characterised. The mutational spectrum was examined by next generation sequencing in the 26 most frequent oncogenic drivers in cancer and correlated with treatment response and survival. Human papillomavirus (HPV) status was measured by p16INK4a immunohistochemistry in oropharyngeal tumours. Clinicopathological features and response to treatment were measured and compared with the sequencing results. The results indicated TP53 as the most mutated gene in locally advanced HNSCC. HPV-positive oropharyngeal tumours were less mutated than HPV-negative tumours in TP53 (p < 0.01). Mutational and HPV status influences patient survival, being mutated or HPV-negative tumours associated with poor overall survival (p < 0.05). No association was found between mutations and clinicopathological features. This study confirmed and expanded previously published genomic characterization data in HNSCC. Survival analysis showed that non-mutated HNSCC tumours associated with better prognosis and lack of mutations can be identified as an important biomarker in HNSCC. Frequent alterations in PI3K pathway in HPV-positive HNSCC could define a promising pathway for pharmacological intervention in this group of tumours

Maior sobrevida em pacientes com marcadores imunogenéticos de rápida progressão para a AIDS: subsídios para a assistência de enfermagem

This study sought subsidies for improving nursing care programs for AIDS patients and aimed to verify the influence of changes in sexual behavior, including the adoption of safe sex practices, associated with the survival of AIDS patients with immunogenetic markers of rapid disease progression. 27 AIDS patients were interviewed, with genetic predisposition to rapid progression to AIDS. Genes were typified through the polymerase chain reaction. In spite of the presence of immunogenetic factors, associated with individual predisposition to a rapid evolution of the disease, changes in sexual behavior, including safe sex practices and antiretroviral therapy, may be related to greater survival. This suggests that counseling, detection of risk attitudes and health education, focusing on positive health behavior, are tools nursing must use with HIV-positive patients, with a view to better quality of life and greater survival among these individuals, even among those with genetic predisposition to rapid disease progression.Los autores buscan apoyo para el perfeccionamiento de programas de enfermería, orientados a pacientes con SIDA. La finalidad de este estudio fue la de verificar la influencia del comportamiento sexual en la supervivencia de pacientes con SIDA, portadores de genes asociados a la rápida progresión de la enfermedad. Fueron estudiados 27 pacientes con SIDA. Las tipificaciones de genes fueron realizadas por la reacción en cadena de la polimerasa. No obstante la presencia de factores inmunogenéticos, asociados a la predisposición individual a la rápida evolución de la enfermedad, cambios en el comportamiento sexual, con prácticas sexuales seguras y el uso de terapia antiretroviral, pueden estar relacionados con mayor supervivencia. La orientación, la detección de actitudes de riesgo y la educación de salud con enfoque en el comportamiento positivo de salud son herramientas que la enfermería debe utilizar con portadores del VIH, buscando la mejor calidad de vida y mayor supervivencia de esos individuos, incluso en aquellos que tienen predisposición genética a la rápida progresión de la enfermedad.Com enfoque em subsídios para o aperfeiçoamento de programas de enfermagem, direcionados a pacientes com aids, o presente estudo foi realizado com o objetivo de verificar a influência do comportamento sexual na sobrevida de pacientes com aids, portadores de genes associados à rápida progressão da doença. Foram entrevistados 27 pacientes com aids, geneticamente predispostos à rápida progressão da doença. As tipificações dos genes foram realizadas pela reação em cadeia da polimerase. Os resultados sugerem que, apesar da presença de fatores imunogenéticos, associados à predisposição individual para rápida evolução da doença, as mudanças do comportamento sexual, com adoção de práticas de sexo seguro, junto ao uso da terapia anti-retroviral, podem estar relacionadas com maior sobrevida. O aconselhamento, a detecção de atitudes de risco e a educação para saúde, enfocando o comportamento positivo de saúde, são ferramentas que a enfermagem deve utilizar a portadores do HIV, visando à melhor qualidade de vida e maior sobrevida desses indivíduos, mesmo naqueles geneticamente predispostos à rápida progressão da doença