Mutaciones del gen JAK2 en CMPDs BCR/ABL y su relación con la trombosis derivada de estas patologías
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2024
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14/06/2023
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Universidad Complutense de Madrid
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Los síndromes mieloproliferativos crónicos BCR/ABL negativos (CMPDs BCR/ABL-), también llamados Neoplasias mieloproliferativas Philadelphia negativas (NMP Phi-), son un conjunto de enfermedades con similitudes clínicas y biológicas, que se caracterizan por presentar:• Trastornos de las células madre hematopoyéticas.• Aumento en la producción de elementos hematopoyéticos maduros.• Hipercelularidad en médula ósea.• Alteraciones citogenéticas.• Esplenomegalia.• Incremento sostenido de la actividad de la línea mieloide.• Complicaciones trombóticas y/o hemorrágicas.• Ausencia del gen de fusión BCR/ABL (cromosoma Philadelphia) En este grupo se incluyen la trombocitosis esencial (TE), la policitemia vera (PV) y la mielofibrosis primaria (MF). Las complicaciones trombóticas representan la causa de morbilidad y mortalidad más importante en estas patologías, sin embargo, los mecanismos moleculares que conducen a la trombosis en ellas no se conocen con exactitud. El descubrimiento de la mutación JAK2V617F supuso un cambio radical en el diagnóstico y la comprensión de estas enfermedades. Existe evidencia de las mutaciones en dicho gen podrían estar relacionadas con el riesgo trombótico...
BCR/ABL- Chronic Myeloproliferative Disorders (CMPDs), also called Philadelphia-negative Myeloproliferative Neoplasms (Phi- MPNs), are a group of diseases with clinical and biological similarities, which are characterized by presenting: • Hematopoietic stem cell disorders. • Increased production of mature hematopoietic elements. • Hypercellularity in bone marrow. • Cytogenetic alterations. • Splenomegaly. • Sustained increase in the activity of the myeloid line. • Thrombotic and/or bleeding complications. • Absence of the BCR/ABL fusion gene (Philadelphia chromosome) This group includes essential thrombocytosis (ET,) polycythemia vera (PV) and primary myelofibrosis(MF). Thrombotic complications represent the most important cause of morbidity and mortality in these pathologies, however, the molecular mechanisms that lead to thrombosis in them are not exactly known. The discovery of JAK2V617F mutation marked a radical change in the diagnosis and understanding of these diseases. There is evidence that mutations in this gene could be related to thrombotic risk...
BCR/ABL- Chronic Myeloproliferative Disorders (CMPDs), also called Philadelphia-negative Myeloproliferative Neoplasms (Phi- MPNs), are a group of diseases with clinical and biological similarities, which are characterized by presenting: • Hematopoietic stem cell disorders. • Increased production of mature hematopoietic elements. • Hypercellularity in bone marrow. • Cytogenetic alterations. • Splenomegaly. • Sustained increase in the activity of the myeloid line. • Thrombotic and/or bleeding complications. • Absence of the BCR/ABL fusion gene (Philadelphia chromosome) This group includes essential thrombocytosis (ET,) polycythemia vera (PV) and primary myelofibrosis(MF). Thrombotic complications represent the most important cause of morbidity and mortality in these pathologies, however, the molecular mechanisms that lead to thrombosis in them are not exactly known. The discovery of JAK2V617F mutation marked a radical change in the diagnosis and understanding of these diseases. There is evidence that mutations in this gene could be related to thrombotic risk...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Ciencias Biológicas, leída el 14/06/2023