Perfil mutacional asociado a recurrencia de la enfermedad y sobrevida en pacientes sometidos a tiroidectomía por cáncer pailar de tiroides en la Fundación Santa Fe de Bogotá

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dc.contributor.advisorBeltrán López, Angela Patricia
dc.contributor.advisorRodríguez Urrego, Paula Andrea
dc.contributor.authorGonzález Rodríguez , Sebastián
dc.date.accessioned2024-08-06T21:25:40Z
dc.date.available2024-08-06T21:25:40Z
dc.date.issued2024-01
dc.description.abstractIntroducción: En Colombia el cáncer de tiroides se encuentra entre los de carcinomas de mayor incidencia, sin embargo, nuestra población carece de estudios sobre su perfil molecular. Este estudio tiene como objetivo caracterizar datos clínicos, histopatológicos y moleculares en una cohorte colombiana con carcinoma papilar de tiroides (CPT). Métodos: Se realizó una revisión retrospectiva de la historia clínica, las características clínico-patológicas, el tratamiento y el seguimiento a 5 años de todos los pacientes. El ADN y el ARN se extrajeron del tejido incluido en parafina fijado con formalina (FFPE) utilizando el kit Quick-DNA & RNA FFPE MiniPrep (Zymo Research). La construcción de librerías se realizó con el kit Solid Tumor Solutions Plus (SOPHiA GENETICS) y la secuenciación de siguiente generación (NGS) en MiSeq (Illumina). El análisis genómico de mutaciones tumorales utilizó la plataforma SOPHiA DDMTM. Se realizó un análisis descriptivo de frecuencias, medias y asociaciones mediante Fisher. Resultados: Se secuenciaron 231 pacientes. La edad media al diagnóstico fue de 46 años (±12,35), con mayor frecuencia de mujeres (81,82%; n=189). Dos casos fueron reclasificados como Neoplasia Folicular de Tiroides No Invasiva (NIFT-P), uno de ellos con mutación RAS. El subtipo histológico predominante fue el CPT clásico (57,64%), seguido de célula alta (28,82%). De los 229 carcinomas, se identificaron mutaciones en 183 casos, incluidos BRAF, RAS, RET, TERT y TP53. Las CNV notables fueron PDGFRA, CDK4 y KIT. Se obtuvieron 2 fusiones en RET y NTRK3 en dos casos de subtipo clásico. La recurrencia a 5 años de esta población fue del 6.98% (n=16) y la mortalidad de 0.44% (n=1). El análisis estadístico de los casos de recurrencia comparado con los que no presentaron recurrencia encontró una asociación significativa con las variables de medición de tiroglobulina a los 48 y 60 meses de seguimiento. Conclusiones: Este es el primer estudio en Colombia (TIROSEC) que integra perfiles moleculares e histopatológicos que enriquecen nuestra comprensión y conocimiento local sobre el PTC. La identificación de mutaciones diana como las fusiones BRAF, RET y NTRK tiene el potencial de guiar terapias dirigidas para la recurrencia de tumores y predecir el comportamiento agresivo. Aunque no encontramos asociaciones estadísticamente significativas histopatológicas o moleculares con la recurrencia o la mortalidad en esta cohorte consideramos que otros estudios de investigación con una mayor población a estudio y mayor tiempo de seguimiento se deberían analizar para encontrar asociaciones pronósticas y predictivas.
dc.description.abstractenglishIntroduction: In Colombia, thyroid cancer is among the most common carcinomas; however, our population lacks studies on its molecular profile. This study aims to characterize clinical, histopathological, and molecular data in a Colombian cohort with papillary thyroid carcinoma (PTC). Methods: A retrospective review of the clinical history, clinicopathological characteristics, treatment and 5-year follow-up of all patients was performed. DNA and RNA were extracted from formalin-fixed paraffin-embedded (FFPE) tissue using the Quick-DNA & RNA FFPE MiniPrep kit (Zymo Research). Library construction was performed using the Solid Tumor Solutions Plus kit (SOPHiA GENETICS) and next-generation sequencing (NGS) on MiSeq (Illumina). Genomic analysis of tumor mutations used the SOPHiA DDMTM platform. A descriptive analysis of frequencies, means and associations was carried out using Fisher. Results: 231 patients were sequenced. The mean age at diagnosis was 46 years (±12.35), with a greater frequency of women (81.82%; n=189). Two cases were reclassified as Non-Invasive Thyroid Follicular Neoplasia (NIFT-P), one of them with a RAS mutation. The predominant histological subtype was classic PTC (57.64%), followed by high cell (28.82%). Of the 229 carcinomas, mutations were identified in 183 cases, including BRAF, RAS, RET, TERT, and TP53. The notable ones for CNV were PDGFRA, CDK4, and KIT. 2 fusions in RET and NTRK3 were obtained in two cases of classic subtype. The 5-year recurrence in this population was 6.98% (n=16) and mortality was 0.44% (n=1). The statistical analysis of cases of recurrence compared to those that did not present recurrence found a significant association with the variables measuring thyroglobulin at 48 and 60 months of follow-up. Conclusions: This is the first study in Colombia (TIROSEC) that integrates molecular and histopathological profiles that enrich our understanding and local knowledge about PTC. Identification of target mutations such as BRAF, RET, and NTRK fusions has the potential to guide targeted therapies for tumor recurrence and predict aggressive behavior. Although we did not find statistically significant histopathological or molecular associations with recurrence or mortality in this cohort, we consider that other research studies with a larger study population and longer follow-up time should be analyzed to find prognostic and predictive associations.
dc.description.degreelevelMaestríaspa
dc.description.degreenameMagíster en Ciencias Básicas Biomédicasspa
dc.description.sponsorshipFundación Santa Fe de Bogotá
dc.format.mimetypeapplication/pdf
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlrepourl:https://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/12843
dc.language.isoes
dc.publisher.facultyFacultad de Medicinaspa
dc.publisher.grantorUniversidad El Bosquespa
dc.publisher.programMaestría en Ciencias Básicas Biomédicasspa
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dc.rightsAtribución-NoComercial-CompartirIgual 4.0 Internacional
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.localAcceso abiertospa
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/
dc.subjectPatología del cáncer papilar de tiroides
dc.subjectDatos de secuenciación de nueva generación
dc.subjectVariantes de nucleótido simple
dc.subjectMutaciones de inserción y/o deleción
dc.subjectAlteración en el número de copias
dc.subjectReordenamientos
dc.subjectRecurrencia del cáncer
dc.subject.keywordsPapillary thyroid cancer pathology
dc.subject.keywordsNext-generation molecular sequence data
dc.subject.keywordsSingle nucleic variant
dc.subject.keywordsInsertion-deletion mutation
dc.subject.keywordsCopy number of variants
dc.subject.keywordsRearrangements
dc.subject.keywordsCancer recurrence
dc.subject.nlmW 50
dc.titlePerfil mutacional asociado a recurrencia de la enfermedad y sobrevida en pacientes sometidos a tiroidectomía por cáncer pailar de tiroides en la Fundación Santa Fe de Bogotá
dc.title.translatedMutational profile associated with disease recurrence and survival in patients undergoing thyroidectomy for paillary thyroid cancer at the Fundación Santa Fe de Bogotá
dc.type.coarhttps://purl.org/coar/resource_type/c_bdcc
dc.type.coarversionhttps://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.driverinfo:eu-repo/semantics/masterThesis
dc.type.hasversioninfo:eu-repo/semantics/acceptedVersion
dc.type.localTesis/Trabajo de grado - Monografía - Maestríaspa

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Maestría en Ciencias Básicas Biomédicas