Publication: Factores pronósticos y biomarcadores moleculares en gammapatías monoclonales
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2021-07-05
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Universidad Complutense de Madrid
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Abstract
Las gammapatías monoclonales (GM) son un grupo de enfermedades muy heterogéneas que se caracterizan por presentar un pico monoclonal en la región gamma y beta en una electroforesis de sangre u orina. En algunos casos el desarrollo de una GM puede ser asintomático, en la mayoría de las veces se detecta de forma accidental tras pruebas de rutina y en algunos casos no implica el desarrollo de otras patologías como el mieloma múltiple (MM) o la amiloidosis de cadenas ligeras (AL), entre otras, que puedan requerir de un tratamiento con quimioterapia. Actualmente, y a pesar de los progresos importantes que se han hecho gracias a lo avances tecnológicos como la secuenciación masiva, todavía no existen marcadores biológicos fiables para predecir qué pacientes progresarán y cuáles no. En este trabajo se ha utilizado la secuenciación masiva para caracterizar genéticamente pacientes con amiloidosis AL y MM, junto con estudios de dinámicas clonales en líneas celulares modificadas genéticamente, con el fin de identificar marcadores biológicos relevantes, que podrían ser utilizados para predecir la evolución o sugerir estrategias terapéuticas que podrían prevenir o retrasar la progresión de la enfermedad...
Monoclonal gammopathies are a group of heterogeneous diseases characterized by presenting a monoclonal peak in the gamma and beta region in a blood or urine electrophoresis. In some cases, the development of a MG can be asymptomatic and, usually, this pathology is accidentally detected by routine medical tests, and often, it does not imply the development of other pathologies such as multiple myeloma (MM) or light chains (AL) amyloidosis, among others, which may require chemotherapy treatment. Currently, and despite the significant progress that has been made in this field, thanks to technological advances such as massive sequencing, there are still no reliable biological markers to predict which patients will and will not progress to a malignant stage. In thiswork, NGS has been used to genetically characterize patients with AL amyloidosis and patients with MM, in addition with studies of clonal dynamics in genetically modified celllines, in order to identify relevant biological markers, which can be used to predict the evolution or suggest therapeutic strategies that could prevent or delay disease progression...
Monoclonal gammopathies are a group of heterogeneous diseases characterized by presenting a monoclonal peak in the gamma and beta region in a blood or urine electrophoresis. In some cases, the development of a MG can be asymptomatic and, usually, this pathology is accidentally detected by routine medical tests, and often, it does not imply the development of other pathologies such as multiple myeloma (MM) or light chains (AL) amyloidosis, among others, which may require chemotherapy treatment. Currently, and despite the significant progress that has been made in this field, thanks to technological advances such as massive sequencing, there are still no reliable biological markers to predict which patients will and will not progress to a malignant stage. In thiswork, NGS has been used to genetically characterize patients with AL amyloidosis and patients with MM, in addition with studies of clonal dynamics in genetically modified celllines, in order to identify relevant biological markers, which can be used to predict the evolution or suggest therapeutic strategies that could prevent or delay disease progression...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, leída el 28/10/2020