Tesis doctoral sobre neoplasias mieloproliferativas crónicas

Se ha introducido en Dadun una nueva tesis doctoral:

Título: Análisis de nuevas alteraciones genéticas en neoplasias mieloproliferativas crónicas BCR-ABL1 negativas.

Autora: Eder Azanza, Laura.

Director: Vizmanos, José Luis.

Resumen: The genetic events that caused the BCR-ABL1 negative myeloproliferative neoplasms (MPNs) were elusive until 2005. That year, a JAK2 somatic mutation (p.V617F) was described in a significant proportion of patients. Shortly after, mutations in JAK2 exon 12 and in MPL were also described. All of them are considered primary events that promote an aberrant activation of the canonical JAK/STAT pathway and seem to be mutually exclusive. In recent years, many other mutated genes affecting different cell processes have been described. Pointing to that, these diseases are more complex than initially thought. Specifically, recent findings suggest that mutations in genes encoding epigenetic regulators are more frequent than expected.

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