Genetics of myeloid leukemias

LM Kelly, DG Gilliland - Annual review of genomics and human …, 2002 - annualreviews.org
LM Kelly, DG Gilliland
Annual review of genomics and human genetics, 2002annualreviews.org
▪ Abstract Human leukemias are typified by acquired recurring chromosomal translocations.
Cloning of these translocation breakpoints has provided important insights into
pathogenesis of disease as well as novel therapeutic approaches. Chronic myelogenous
leukemias (CML) are caused by constitutively activated tyrosine kinases, such as BCR/ABL,
that confer a proliferative and survival advantage to hematopoietic progenitors but do not
affect differentiation. These activated kinases are validated targets for therapy with selective …
Abstract
Human leukemias are typified by acquired recurring chromosomal translocations. Cloning of these translocation breakpoints has provided important insights into pathogenesis of disease as well as novel therapeutic approaches. Chronic myelogenous leukemias (CML) are caused by constitutively activated tyrosine kinases, such as BCR/ABL, that confer a proliferative and survival advantage to hematopoietic progenitors but do not affect differentiation. These activated kinases are validated targets for therapy with selective tyrosine kinase inhibitors, a paradigm that may have broad applications in treatment of hematologic malignancies as well as solid tumors. Chromosomal translocations in acute myeloid leukemias (AML) most often result in loss-of-function mutations in transcription factors that are required for normal hematopoietic development. These latter mutations, however, are not sufficient to cause AML. The available evidence indicates that activating mutations in the hematopoietic tyrosine kinases FLT3 and c-KIT, and in N-RAS and K-RAS, confer proliferative advantage to hematopoietic progenitors and cooperate with loss-of-function mutations in hematopoietic transcription factors to cause an acute leukemia phenotype characterized by proliferation and impaired differentiation. The data supporting this hypothesis and the clinical and therapeutic implications of these observations are reviewed.
Annual Reviews