RT Journal Article
T1 Impact of Genetic Polymorphisms and Biomarkers on the Effectiveness and Toxicity of Treatment of Chronic Myeloid Leukemia and Acute Myeloid Leukemia.
A1 Alarcón-Payer, Carolina
A1 Sánchez Suárez, María Del Mar
A1 Martín Roldán, Alicia
A1 Puerta Puerta, José Manuel
A1 Jiménez Morales, Alberto
K1 acute myeloid leukemia
K1 biomarkers
K1 chronic myeloid leukemia
K1 personalized medicine
K1 pharmacogenetics
K1 polymorphisms
K1 response
K1 tyrosine kinase inhibitors
AB Most malignant hematological diseases are generally a consequence of acquired mutations or rearrangements in cell replication processes. Acute myeloid leukemia (AML) is a clinically and molecularly heterogeneous disease that results from acquired genetic and epigenetic alterations in hematopoietic progenitor cells. Despite the advances made in understanding the pathogenesis of this disease, the overall survival of patients remains very low due to the high relapse rate. Pharmacogenetics and massive sequencing studies have allowed the identification of new recurrent mutations with significant prognostic impact in AML; furthermore, it seems likely that whole genome sequencing will soon become a standard diagnostic test, which will allow the molecular diagnosis of patients. Therefore, it is necessary to develop molecular targets that open new therapeutic perspectives and allow individualized treatment of patients with this aggressive disease. Chronic myeloid leukemia (CML) is the first neoplastic disease for which a characteristic genetic alteration was described. It has, by definition, a genetic marker, the BCR::ABL1 rearrangement, as a consequence of the t9;22(q34;q11) translocation. Its study is essential for the diagnosis of this entity and also for monitoring the response to treatment. Drugs known as tyrosine kinase inhibitors (TKIs) that target the BCR::ABL1 protein (oral targeted therapy) are the conventional treatment of CML, representing a change of paradigm in the management of oncohematological patients.
SN 2075-4426
YR 2022
FD 2022-09-29
LK http://hdl.handle.net/10668/21388
UL http://hdl.handle.net/10668/21388
LA en
DS RISalud
RD Apr 17, 2025