Abstract
Cytogenetic and molecular analysis of each patient’s leukemia cells has become an essential component of diagnosis prior to treatment. It has furthered our understanding of leukemogenesis at a molecular level. Specific and well-characterized recurring chromosomal abnormalities facilitate diagnosis, confirm subtype classification, and have major prognostic value for treatment planning. Conventional chromosome analysis is a basic way for diagnosis and treatment. In addition in this way evaluation of disease progression is important and so it is the only method that can identify the presence of clonal evolution, particularly in accelerated and relapse phase in the disease. Also conventional cytogenetic can detect chromosomal abnormality associated with its advanced phase. Anyhow, the value of translocation rates in interphase and metaphase nuclei in monitoring leukemia is at the time of diagnosis and after treatment additionally. Genomic profiling transformed our understanding of the genetic basis of leukemia particularly in acute leukemia, which is a malignant clonal proliferation in lymphoid stem cells or myeloid progenitor cells.
Highlights
As we know, leukemia is the consequence of step-wise genetic alterations that confer both proliferative and survival advantage, as well as selfrenewal capacity to the malignant cells
Genomic profiling transformed our understanding of the genetic basis of leukemia in acute leukemia, which is a malignant clonal proliferation in lymphoid stem cells or myeloid progenitor cells
The major difference between leukemia growth and normal tissue renewal is that whereas normal transit amplifying cells usually differentiate and die at various levels of differentiation, the leukemia transit-amplifying cells can go to differentiate abanormally and instead, accumulate, resulting in leukemia growth(1-.2,7-12)We know cytogenetic and molecular testing in leukemia is integral to diagnosis and minimal residual disease (MRD) monitoring as well
Summary
Leukemia is the consequence of step-wise genetic alterations that confer both proliferative and survival advantage, as well as selfrenewal capacity to the malignant cells. Leukemia stem cells (LSCs) possess several key properties of normal cells including self -renewal, unlimited proliferative potential, infrequent or slow replication. The major difference between leukemia growth and normal tissue renewal is that whereas normal transit amplifying cells usually differentiate and die at various levels of differentiation, the leukemia transit-amplifying cells can go to differentiate abanormally and instead, accumulate, resulting in leukemia growth(1-.2,7-12)We know cytogenetic and molecular testing in leukemia is integral to diagnosis and minimal residual disease (MRD) monitoring as well. For fusion genes studies FISH is a more sensitive test in the advantage of routinely interrogating 50 to 200 metaphase or interphase cells .one of the most sensitive test is RT-PCR in molecular fusion gene study and MRD assay as well[1,28,39]
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