ABSTRACT

Conventional cytogenetic (G-banding), fluorescent in situ hybridizatoin (FISH), and molecular methods are commonly applied in the diagnosis of hematologic malignancies and are of increasing practical importance to accurately evaluate prognosis and evaluate for minimal residual disease [1–12]. Cytogenetic analysis has become routine in the evaluation of patients with myeloid and many lymphoid diseases, and in conjunction with morphology and immunophenotyping helps to establish a definite diagnosis and recognize disease subsets and is essential in evaluating disease progression. FISH probes are now available for many common chromosomal abnormalities and often provide an advantage over classic cytogenetics by detecting chromosomal abnormalities, which can be masked or cryptic in conventional G-banding technologies. Polymerase chain reaction (PCR) methods for the determination of clonality by analysis of IGH and TCRγ gene rearrangements are the most widely used and involve different IGH V framework regions for B-cell analysis and TCRγ V and J genes for T-cell analysis.