Abstract
A new understanding of acute myeloid leukemia as a varied group of unique biologic
entity has emerged, as a result of the identification of various chromosomal aberrations
and their association with clinical prognosis and diagnosis. Following induction treatment,
cytogenetic examination can establish the presence of any residual malignant cells,
it's recurrence, clonal evolution if any, or the formation of novel abnormalities.
The G-banded karyotype has been the gold standard method for detecting all of these
aberrations for years. The capacity to examine the entire genome through karyotype
analysis quickly enabled the detection of deletions, duplications, and structural
rearrangements across every chromosome, and the more frequent ones were associated
with particular aberrant clinical symptoms. Fluorescence in situ hybridization (FISH)
is a sensitive technology that aids in differential diagnosis or therapeutic planning
and provides rapid results. Furthermore, the combination of cytogenetic and molecular
profiling enables a more precise evaluation of disease prognosis, diagnosis, classification,
risk stratification, and patient treatment. Interphase FISH analysis, in conjunction
with G-banded chromosomal analysis, can be used as a major testing tool for the evaluation
of hematological neoplasms. For accurate and consistent descriptions of genomic changes
identified by karyotyping and FISH, a specified terminology is necessary. The International
System for Human Cytogenomic Nomenclature is the main source and provides instructions
for documenting cytogenetic and molecular findings in laboratory reports. This review
discusses the two methods, karyotyping and FISH, their advantages and limitations,
sample requirements, various FISH probes that are used, nomenclature for results reporting,
and the necessary quality control measures.
Keywords WHO classification - prognosis - FISH - cytogenetics - amplification - probes
