RESUMEN
About 4% to 7% of the non-small-cell lung cancer patients have anaplastic lymphoma kinase (ALK) rearrangements, and specific targeted therapies improve patients' outcomes significantly. ALK gene fusions are detected by immunohistochemistry or fluorescent in situ hybridization as gold standards in South America. Next-generation sequencing-based assays are a reliable alternative, able to perform simultaneous detection of multiple events from a single sample. We analyzed 4240 non-small-cell lung cancer samples collected in 37 hospitals from Chile, Brazil, and Peru, where ALK rearrangements were determined as part of their standard of care (SofC) using either immunohistochemistry or fluorescent in situ hybridization. A subset of 1450 samples was sequenced with the Oncomine Focus Assay (OFA), and the concordance with the SofC tests was measured. An orthogonal analysis was performed using a real-time quantitative PCR echinoderm microtubule-associated protein-like 4-ALK fusion detection kit. ALK fusion prevalence is similar for Chile (3.67%; N = 2142), Brazil (4.05%; N = 1013), and Peru (4.59%; N = 675). Although a comparison between OFA and SofC assays showed similar sensitivity, OFA had significantly higher specificity and higher positive predictive value, which opens new opportunities for a more specific determination of ALK gene rearrangements.
Asunto(s)
Quinasa de Linfoma Anaplásico/genética , Carcinoma de Pulmón de Células no Pequeñas/genética , Fusión Génica , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Neoplasias Pulmonares/genética , Proteínas de Fusión Oncogénica/genética , Adulto , Anciano , Anciano de 80 o más Años , Brasil/epidemiología , Carcinoma de Pulmón de Células no Pequeñas/epidemiología , Chile/epidemiología , Femenino , Reordenamiento Génico , Humanos , Inmunohistoquímica/métodos , Hibridación Fluorescente in Situ/métodos , Neoplasias Pulmonares/epidemiología , Masculino , Persona de Mediana Edad , Perú/epidemiología , Estudios Prospectivos , Estudios Retrospectivos , Nivel de Atención , Adulto JovenRESUMEN
Introducción: Numerosas publicaciones han alertado sobre el aumento sostenido de las tasas de prevalencia al nacimiento de gastrosquisis en todo el mundo, catalogado este hecho como una «pandemia¼ fuertemente asociada a edad materna baja. Objetivos: Comprobar si en Chile se ha producido también un aumento significativo de la tasa de prevalencia al nacimiento de gastrosquisis y si se relaciona con edad materna baja. Pacientes y método: Se usó la base de datos ECLAMC de 26 hospitales chilenos participantes. Las tasas de prevalencia entre hospitales y las categorías de edad materna se compararon con prueba de Chi cuadrado o prueba exacta de Fisher. Se estudió la serie temporal mediante comparación de tendencias lineales, usando comparaciones de medias vía t-test y Wilcoxon-test. Resultados: En el período 1982-2014 nacieron 721.901 niños, entre los que se encontró 107 casos de gastrosquisis (1,49/10.000), el 75,7% de ellos eran hijos de mujeres menores de 25 años. El promedio de edad materna de los casos fue de 21,6 años, y el promedio nacional es cercano a 28 años, según el Ministerio de Salud. A partir de 1995 esta tasa mostró una tendencia ascendente significativamente distinta de cero (p = 0,00714), con un aumento de 0,1591 cada año. Este incremento fue alrededor del 300% entre 1995 y 2014, respecto del período anterior (p < 0,00001). Conclusión: En Chile se ha producido un aumento significativo de las tasas de gastrosquisis después del año 1995, y esta anomalía se asocia fuertemente con baja edad materna.
Introduction: Several communications have reported a significant increase in the prevalence of gastroschisis at birth in the last three decades. In many Countries it is referred to as "a pandemic strongly associated to low maternal age". Objective: To verify if there has been a significant increase in the prevalence of gastroschisis at birth in Chile, and if this rate is associated with a low maternal age. Patients and methods: The study was performed using the ECLAMC data base from 26 Chilean Hospitals. Comparison between prevalence rates and maternal age categories were made using the X² test or Fisher exact Test. The time series was studied comparing average tendencies using the Student t test and Wilcoxon-test. Results: There were 721,901 newborns in the period 1982-2014, among which 107 were diagnosed with gastroschisis (1.48/10,000). Around three-quarters (75.7%) of them were born from mothers younger than 25. The mean maternal age was 21.6 years in mothers of children with gastroschisis, while the mean maternal age of all mothers from Chile was almost 28 years old. The gastroschisis prevalence at birth rate was constant at around 1/10,000 until 1994. From 1995 this rate has a significant increasing tendency of 0.1591 by year (P = .00714). This increase is about a 300% on average for the 1995-2014 period, compared with the previous one (P < .00001). Conclusion: There has been a significant increase in the gastroschisis prevalence at birth in Chile from 1995, and this anomaly is associated with a low maternal age.
Asunto(s)
Humanos , Femenino , Embarazo , Recién Nacido , Adolescente , Adulto , Adulto Joven , Edad Materna , Gastrosquisis/epidemiología , Chile/epidemiología , Prevalencia , Factores de Riesgo , Bases de Datos Factuales , Estadísticas no Paramétricas , Gastrosquisis/etiologíaRESUMEN
INTRODUCTION: Several communications have reported a significant increase in the prevalence of gastroschisis at birth in the last three decades. In many Countries it is referred to as "a pandemic strongly associated to low maternal age". OBJECTIVE: To verify if there has been a significant increase in the prevalence of gastroschisis at birth in Chile, and if this rate is associated with a low maternal age. PATIENTS AND METHODS: The study was performed using the ECLAMC data base from 26 Chilean Hospitals. Comparison between prevalence rates and maternal age categories were made using the X2 test or Fisher exact Test. The time series was studied comparing average tendencies using the Student t test and Wilcoxon-test. RESULTS: There were 721,901 newborns in the period 1982-2014, among which 107 were diagnosed with gastroschisis (1.48/10,000). Around three-quarters (75.7%) of them were born from mothers younger than 25. The mean maternal age was 21.6 years in mothers of children with gastroschisis, while the mean maternal age of all mothers from Chile was almost 28 years old. The gastroschisis prevalence at birth rate was constant at around 1/10,000 until 1994. From 1995 this rate has a significant increasing tendency of 0.1591 by year (P=.00714). This increase is about a 300% on average for the 1995-2014 period, compared with the previous one (P<.00001). CONCLUSION: There has been a significant increase in the gastroschisis prevalence at birth in Chile from 1995, and this anomaly is associated with a low maternal age.