Autor de correspondencia: Unidad de Endoscopia, Hospital Universitari i Politècnic La Fe/IIS La Fe. Av. Fernando Abril Martorell 106, 46026 Valencia, Spain
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Hospital Universitari i Politècnic La Fe, Valencia, Spain" "etiqueta" => "6" "identificador" => "aff0030" ] 6 => array:3 [ "entidad" => "Unidad de endoscopia. Hospital Universitari i Politècnic La Fe/IIS La Fe, Valencia, Spain" "etiqueta" => "7" "identificador" => "aff0035" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Autor de correspondencia: Unidad de Endoscopia, Hospital Universitari i Politècnic La Fe/IIS La Fe. Av. Fernando Abril Martorell 106, 46026 Valencia, Spain" ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "GENETIC CHARACTERISTICS AND EXTRACOLONIC PHENOTYPIC MANIFESTATIONS IN PATIENTS WITH FAMILIAR ADENOMATOUS POLYPOSIS" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2024-07-26" "fechaAceptado" => "2024-10-04" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec1892765" "palabras" => array:3 [ 0 => "Poliposis adenomatosa familiar" 1 => "variante patogénica" 2 => "gen APC" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec1892764" "palabras" => array:3 [ 0 => "Familial adenomatous polyposis" 1 => "genetic mutation" 2 => "APC gene" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:2 [ "titulo" => "RESUMEN" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Introducción: La poliposis adenomatosa familiar (PAF) es una enfermedad hereditaria causada por variantes patogénicas del gen <span class="elsevierStyleItalic">APC</span>, que también se asocia con manifestaciones extracolónicas. El objetivo fue caracterizar las manifestaciones extracolónicas en una cohorte de pacientes con PAF clásica y la posible asociación genotipo-fenotipo.</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Materiales y métodos: El diseño del estudio fue observacional descriptivo. Se recogieron las variables demográficas, clínicas y genéticas en función del tipo de variante patogénica (<span class="elsevierStyleItalic">frameshift, nonsense, splicing, rearrangement</span> y otras).</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Resultados: Se incluyeron 45 pacientes con PAF (edad media 47 años, rango 21-78; sexo femenino 51%), pertenecientes a 21 familias, con una mediana de 2 (rango 0-6) de manifestaciones por paciente. Un 80% (n=36) presentaron afectación del tracto digestivo superior, siendo los adenomas duodenales (73%), la poliposis fúndica (56%) y la presencia de ampuloma (36%) los hallazgos más frecuentes. La afectación extraintestinal más frecuente fue el tumor desmoide (16%) y el carcinoma papilar de tiroides (13%). Un 38 % de los pacientes presentaron un fenotipo agresivo (Spigelman III-IV, displasia de alto grado, neoplasia invasiva, tumor desmoide y carcinoma papilar de tiroides). Las variantes patogénicas más habituales fueron <span class="elsevierStyleItalic">frameshift</span> (56%), <span class="elsevierStyleItalic">nonsense</span> (26%) y <span class="elsevierStyleItalic">splicing</span> (16%), localizadas principalmente en el exón 15 (50%). No se demostró una correlación significativa entre el tipo de variante patogénica con la gravedad y localización de las manifestaciones fenotípicas.</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Conclusiones: Una tercera parte de los pacientes con PAF presentan un fenotipo agresivo, sin demostrarse una correlación entre tipo de alteración genética y las manifestaciones fenotípicas.</p></span>" ] "en" => array:2 [ "titulo" => "ABSTRACT" "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Introduction: Familial adenomatous polyposis (FAP) is a hereditary disease caused by mutations in the <span class="elsevierStyleItalic">APC</span> gene, which is also associated with extracolonic manifestations. The objective was to characterize the extracolonic manifestations in a cohort of patients with classic FAP and the possible genotype-phenotype association.</p><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Materials and Methods: The study design was observational and descriptive. Demographic, clinical, and genetic variables were collected based on the type of mutation (frameshift, nonsense, splicing, rearrangement, and others).</p><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Results: We included 45 patients with FAP (mean age 47 years, range 21-78; 51% female), belonging to 21 families, with a median of 2 (range 0-6) manifestations per patient. 80% (n=36) had upper digestive tract involvement, with duodenal adenomas (73%), fundic gland polyposis (56%), and ampullary adenoma (36%) being the most frequent findings. The most common extraintestinal manifestations were desmoid tumors (16%) and papillary thyroid carcinoma (13%). 38% of the patients presented an aggressive phenotype (Spigelman III-IV, high-grade dysplasia, invasive neoplasia, desmoid tumor, and papillary thyroid carcinoma). The most common genetic mutations were frameshift (56%), nonsense (26%), and splicing (16%), primarily located in exon 15 (50%). No significant correlation was found between the type of genetic mutation and the severity or location of phenotypic manifestations.</p><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Conclusions: One-third of patients with FAP present an aggressive phenotype, without a demonstrated correlation between the type of genetic alteration and the phenotypic manifestations.</p></span>" ] ] ] "idiomaDefecto" => "es" "url" => "/02105705/unassign/S0210570524002656/v1_202410140404/es/main.assets" "Apartado" => null "PDF" => "https://static.elsevier.es/multimedia/02105705/unassign/S0210570524002656/v1_202410140404/es/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0210570524002656?idApp=UINPBA00004N" ]
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