Acute myeloid leukemia (AML) is a haematological malignancy characterized by the excessive proliferation of immature myeloid cells coupled with impaired differentiation. Many AML cases have been reported without any known cytogenetic abnormalities and carry no mutation in known AML-associated driver genes. In this study, 200 AML cases were selected from a publicly available cohort and different...

Humans are exposed to a large number of environmental genotoxic agents. These can increase the probability that somatic mutation will occur. The use of genotoxicity testing is essential for assessment of potential human toxicity so that hazards can be prevented. Cytogenetic monitoring of human populations exposed to chemicals has proved to be a useful tool for detecting the chemical mutagenic e...

After the fundamental discovery in 1956 that normal human cells contain 46 chromosomes, clinical cytogenetics was born and studies into the relation of chromosomal defects and disease could begin. Although many technical advances have been made over this long period, including the introduction of molecular techniques, until now, all cytogenetic studies have been performed through regular micros...

High-resolution molecular cytogenetic techniques such as genomic array CGH and MLPA detect submicroscopic chromosome aberrations in patients with unexplained mental retardation. These techniques rapidly change the practice of cytogenetic testing. Additionally, these techniques may improve genotype-phenotype studies of patients with microscopically visible chromosome aberrations, such as Wolf-Hi...

Waldenström macroglobulinemia (WM) is a malignant lymphoplasma-proliferative disorder with IgM monoclonal gammopathy. A recent whole-genome study identified MYD88 L265P as the key mutation in WM. We investigated MYD88 mutations in conjunction with cytogenetic study in 22 consecutive Korean WM patients. Conventional G-banding and interphase fluorescence in situ hybridization (FISH) were performe...

B-cell acute lymphoblastic leukemia (B-ALL) accounts for 20-30% of acute leukemias in adults. Combined application of data from immunophenotyping, karyotyping and molecular analyses allows a better understanding of this heterogeneous disease. We studied 30 adult patients with newly diagnosed B-ALL by conventional cytogenetics, fluorescent in situ hybridization (FISH) and immunophenotyping analy...

We investigated the relative prognostic significance of cytogenetics in 635 adult acute myeloid leukemia (AML) patients 60 years of age or older treated on front-line protocols. Classification trees and treestructured survival analysis (TSSA) were used to identify important cytogenetic groups, and their prognostic significance was then assessed in multivariable analysis (MVA). Overall, 48.5% ac...

Paraffin-embedded tissue samples from 30 cases of non-Hodgkin's lymphoma(NHL) and 10 of reactive hyperplasia, were processed for interphase cytogenetic chromosomal study. We performed non-fluorescent in situ hybridization(NFISH) using the enzymatic method with digoxigenin-labeled DNA centromeric probes for chromosome 7,12,18 and X, and a painting probe for chromosome 18. Chromosomal aberrations...

In Hodgkin's disease, cytogenetically aberrant clones have been demonstrated in a minority of cases studied. In the remaining cases, only normal metaphases have been found, but it is questionable whether normal karyotypes actually correspond to the pathognomonic Hodgkin and Reed-Sternberg (HRS) cells. Numerical aberrations could be studied by fluorescence in situ hybridization (FISH). However, ...

Chromosomal analysis is an important etiological investigation in couples with repeated spontaneous abortions as it helps in genetic counseling and deciding about further reproductive options. Abortions ,specially first trimester abortions is a very common complication and a matter of concern for couples planning pregnancy. Balanced chromosomal rearrangements in either parent is an important ca...