Targeted gene next-generation sequencing panel in patients with advanced lung adenocarcinoma: Paving the way for clinical implementation

Identification of targetable molecular changes is essential for selecting appropriate treatment in patients with advanced lung adenocarcinoma. Methods: In this study, a Sanger sequencing plus Fluorescence In Situ Hybridization (FISH) sequential approach was compared with a Next-Generation Sequencing (NGS)-based approach for the detection of actionable genomic mutations in an experimental cohort (EC) of 117 patients with advanced lung adenocarcinoma. Its applicability was assessed in small biopsies and cytology specimens previously tested for epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK) mutational status, comparing the molecular changes identified and the impact on clinical outcomes. Subsequently, an NGS-based approach was applied and tested in an implementation cohort (IC) in clinical practice. Using Sanger and FISH, patients were classified as EGFR-mutated (n = 22, 18.8%), ALK-mutated (n = 9, 7.7%), and unclassifiable (UC) (n = 86, 73.5%). Retesting the EC with NGS led to the identification of at least one gene variant in 56 (47.9%) patients, totaling 68 variants among all samples. Still, in the EC, combining NGS plus FISH for ALK, patients were classified as 23 (19.7%) EGFR; 20 (17.1%) KRAS; five (4.3%) B-Raf proto-oncogene (BRAF); one (0.9%) Erb-B2 Receptor Tyrosine Kinase 2 (ERBB2); one (0.9%) STK11; one (0.9%) TP53, and nine (7.7%) ALK mutated. Only 57 (48.7%) remained genomically UC, reducing the UC rate by 24.8%. Fourteen (12.0%) patients presented synchronous alterations. Concordance between NGS and Sanger for EGFR status was very high (¿ = 0.972; 99.1%). In the IC, a combined DNA and RNA NGS panel was used in 123 patients. Genomic variants were found in 79 (64.2%). In addition, eight (6.3%) EML4-ALK, four (3.1%), KIF5B-RET, four (3.1%) CD74-ROS1, one (0.8%) TPM3-NTRK translocations and three (2.4%) exon 14 skipping MET Proto-Oncogene (MET) mutations were detected, and 36% were treatable alterations. Conclusions: This study supports the use of NGS as the first-line test for genomic profiling of patients with advanced lung adenocarcinoma.We acknowledge the work of the members of our department, especially doctors from the thoracic oncology unit, oncology and pulmonology nurses and, patients and their relatives. N. Martins would like to thank the Portuguese Foundation for Science and Technology (FCT-Portugal) for the Strategic project ref. UID/BIM/04293/2013 and "NORTE2020—Northern Regional Operational Program" (NORTE-01-0145-FEDER-000012)

Concepções das mães sobre os filhos prematuros em UTI Concepciones de las madres acerca de sus hijos prematuros en la UTI Mothers' conceptions about their premature children in ICU

Neste estudo, nossa proposta foi dirigir-nos às mães que tiveram bebês nascidos prematuros e necessitaram ser assistidas em UTI neonatal, buscando compreender os sentimentos suscitados nessas mães por tal situação e, assim, projetar novas possibilidades de cuidado a esses seres. Para tanto, optamos por um estudo qualitativo-descritivo, embasado nos princípios da fenomenologia existencial. Da análise emergiram quatro categorias; A dor de ver seu filho nascer prematuro e ser tirado de seus braços; padecimento ante a possibilidade de perder parte de si; sentimentos avivados a partir da compreensão da situação do filho e, a importância da equipe de saúde no processo de recuperação do filho. Depreendemos que escutar e olhar atentamente são instrumentos imprescindíveis para assistir a mãe e seu filho em suas singularidades.<br>En este estudio nuestra propuesta fue dirigirnos a las madres que tuvieron bebés nacidos prematuros y necesitaron ser acompañados en UCI Neonatal, buscando comprender los sentimientos provocados en esas madres por tal situación y, así, proyectar nuevas posibilidad de cuidados a esos seres. Para eso, optamos por un estudio cualitativo descriptivo, con base en los principios de la fenomenología existencial. Del análisis emergieron cuatro categorías; El dolor de ver a su hijo nacer prematuro y ser arrancado de sus brazos; padecimientos ante la posibilidad de perder parte de sí misma; sentimientos avivados a partir de la comprensión de la situación del hijo y, la importancia del equipe de salud en el proceso de recuperación del hijo. Percibimos que escuchar y mirar atentamente son instrumentos imprescindibles para ayudar ala madre y a su hijo en sus singularidad.<br>In this study, our purpose was to direct ourselves to the mothers who had babies that were born prematurely and needed to be assisted in a Neonatal Intensive Care Unit, searching for the comprehension of the feelings provoked in these mothers due to such situation and, thus, project new possibilities of caring aimed at these beings. For that, we opted for a qualitative-descriptive study, based on the principles of the existential phenomenology. From the analysis, four categories emerged; the pain to see her child be born prematurely and then be taken away from her arms; undergoing the possibility of losing a part of hers; revival of feelings from the understanding of the situation of the child and; the importance of the hospital's staff during the process of her child's recovering. We inferred that listening and paying attention are vital instruments to aid the mother and her child in their singularities

Evaluation of the virtual learning object "Diagnostic reasoning in nursing applied to preterm newborns" Evaluación del objeto virtual de aprendizaje "Raciocinio diagnóstico en enfermería aplicado al prematuro" Avaliação do objeto virtual de aprendizagem "Raciocínio diagnóstico em enfermagem aplicado ao prematuro"

The potential use of computer technology in teaching and continuous education for nursing motivated the development of this study to evaluate the virtual learning object, "Diagnostic Reasoning in Nursing Applied to Preterm Newborns" at an intermediate neonatal care unit. This descriptive study evaluates the appearance and content of the virtual object concerning aspects related to presentation, organization, usability and overall impression. Experts from the fields of computer technology (12) and nursing (31) participated in the evaluation process. Each sub-item of the instrument was assessed on a Likert scale and blank space was provided for comments/suggestions. All items were positively evaluated by over 80% of the experts, except for the 'informational density' criterion in the evaluation performed by computer technology experts. The developed product is considered adequate to be used for teaching for nursing students and in continuous education of diagnostic reasoning in the development of Nursing Diagnoses for preterm newborns, in the problem-posing pedagogical framework.<br>Vislumbrando el potencial de uso de la informática en la formación y educación permanente en enfermería, se realizó el presente estudio con el objetivo de evaluar el objeto virtual de aprendizaje "Raciocinio Diagnóstico en Enfermería Aplicado al Prematuro" en una unidad de cuidado intermedio neonatal. Se trata de un estudio descriptivo sobre la evaluación de la apariencia y contenido del objeto virtual en los aspectos relacionados a la presentación, organización, usabilidad e impresión general. Participaron peritos de las áreas de informática (12) y enfermería (31). Cada sub-ítem de los instrumentos contenía evaluación en escala tipo Likert y espacio para inclusión de comentarios/sugerencias. Todos los ítems fueron evaluados positivamente por más de 80% de los evaluadores, excepto el criterio densidad de información en la evaluación de los profesionales de informática. Se considera que el producto desarrollado está adecuado para ser colocado a disposición para uso en la enseñanza de estudiantes y en la educación permanente de enfermeros sobre raciocinio diagnóstico en la elaboración de Diagnósticos de Enfermería aplicados al prematuro, dentro del marco pedagógico de la problematización.<br>Vislumbrando o potencial de uso da informática, na formação e educação permanente em enfermagem, realizou-se o presente estudo com o objetivo de avaliar objeto virtual de aprendizagem raciocínio diagnóstico em enfermagem aplicado ao prematuro, em unidade de cuidado intermediário neonatal. Trata-se de estudo descritivo sobre a avaliação da aparência e conteúdo do objeto virtual, nos aspectos relacionados à apresentação, organização, usabilidade e impressão geral. Participaram peritos das áreas de informática (12) e enfermagem (31). Cada subitem dos instrumentos continha avaliação em escala Likert e espaço para inclusão de comentários/sugestões. Todos os itens foram avaliados positivamente por mais de 80% dos avaliadores, exceto o critério densidade informacional na avaliação dos profissionais de informática. Considera-se que o produto desenvolvido está adequado para ser disponibilizado para uso no ensino de estudantes e educação permanente de enfermeiros, sobre raciocínio diagnóstico na elaboração de diagnósticos de enfermagem, aplicados ao prematuro, inserido no referencial pedagógico da problematização