Frequency evaluation of cytogenetic and molecular alterations in AML at diagnosis and sequentially in the remission

Abstract

The Acute Myeloid Leukemias (AML) are clonal neoplasic diseases genetically heterogeneous, characterized by somatic alterations in hematopoietic stem cells that modified the normal mechanisms of self-renew, proliferation and differentiation of these cells. The distinct clinical characteristics in each disease require differential diagnosis to determine the disease classification and the appropriate therapy. Recently a large number of genetic mutations and deregulated expressions of these genes have been identified, emerging as new diagnostic and prognostic factors and targets for new therapies, such as: NPM1, FLT3, WT1, CEBPA, K-Ras, N-Ras, MLL, RUNX1 e c-KIT. However, there are still a few studies among us that assess the range of cytogenetic and molecular alterations at diagnosis in patients with AML and no one covering all the listed genes. According to the studies so far conducted at Unifesp, as well as others conducted in collaboration, the complete remission rate and overall survival is shorter than the expected. So the best knowledge of the disease's genetic is critically important to contribute to the understanding of their biology and program improvements. Armed with this knowledge would be interesting evaluate, in hematologic remission, the level of residual disease as well as subsequently at the end of intensification. It would also be useful to compare the observed alterations with the clinical characteristics in the presentation and the outcome of evolution. (AU)