前沿科技及其它

Many subtypes of B-cell malignancy are characterized by chromosomal translocations that target the immunoglobulin loci. Molecular cloning of such translocations continues to allow the identification of genes whose deregulated expression plays a pivotal role in the pathogen ...

Cytogenetic information in patients with myelodysplastic syndrome (MDS) is important in predicting prognosis and therapeutic direction. In MDS, the detection of numerical type abnormalities, either whole chromosome or partial chromosomal segments, is important. In genera ...

Cytogenetic analysis is an integral part of the diagnostic work-up of the patient with acute myeloid leukaemia. Conventional cytogenetic analysis relies on obtaining a good quality bone marrow specimen in a timely fashion and setting up at least two short-term cultures. A 15–24-h culture and a ...

Chronic myeloid leukemia (CML) is a clonal myeloproliferative disease caused by recombination between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. This rearrangement generates the BCR–ABL1 fusion gene that characterizes leukemic cells in all CML cases. In about 90% of cas ...

A robust procedure for performing fluorescence in situ hybridization (FISH) is described, with tips for troubleshooting. FISH probes are now more reliable and there is a greater range commercially available. FISH is an essential part of the cytogeneticist’s repertoire. It remains a powe ...

Cytogenetic methods have not changed greatly over the last 50 years since Nowell and Hungerford’s description of the Philadelphia chromosome but the clinical utility of these methods has evolved dramatically. The multicentre clinical studies that have identified major clinical a ...

Like most cytogeneticists, I have been informed by well-meaning colleagues at regular intervals over the last couple of decades that cytogenetics is an old-fashioned science that will be superseded in the very near future by molecular biological techniques. Yet, my laboratory is busier t ...

Use of appropriate methods to produce analysable metaphase spreads and high-quality fluorescence in situ hybridization (FISH) and array results is critical to successful cytogenetic analysis of haematological malignancies, but the analysis and reporting of the findings of th ...

The identification of structural genetic alterations, including DNA amplifications, deletions, and loss of heterozygosity (LOH), using single nucleotide polymorphism (SNP) microarrays has provided important insights into the pathogenesis of a number of hematologic mali ...

Conventional comparative genomic hybridization (CGH), high-resolution oligonucleotide, and BAC array CGH have modernized the field of cytogenetics to enable access to unbalanced genomic aberrations such as whole or partial chromosomal gains and losses. The basic principle of ...

Multicolour fluorescence in situ hybridisation (M-FISH) and multicolour banding (M-BAND) are advanced chromosome painting techniques combining multiple chromosome- or region-specific paints in one step. M-FISH identifies all chromosomes or chromosome arms at once, where ...

Although in situ hybridization has been in use for over 30 years, its application to the study of solid tissue has only recently been adopted. Despite the numerous reports of the viability of formalin-fixed, paraffin-embedded (FFPE) tissue for fluorescence in situ hybridization (FISH) tes ...

The study of chromosome abnormalities in solid tumours provides valuable information for the diagnosis and prognostic stratification of a variety of tumour subtypes. Technical challenges are encountered in tissue culture, harvesting and finally the interpretation of complex ...

The low proliferation rate of myeloma cells in vitro can result in a normal cytogenetic karyotype with the abnormal cell population not being detected. Because plasma cell myeloma is a patchy disease, conventional FISH is also hampered by normal cell contamination. Identification of pla ...

Metaphase chromosome studies in multiple myeloma (MM) are performed as part of the diagnostic workup, as surveillance to monitor the therapeutic response, and at relapse to help direct therapy. Unfortunately, the abnormal clones in many patients have a low proliferative activity and th ...

Malignant non-Hodgkin’s lymphoma (NHL) is a heterogeneous group of tumors, the histological classification of which based on morphologic evaluation alone is not always possible. Various technological advances in cytogenetics combined with molecular approaches have great ...

The possibility of effective treatment of hepatocellular carcinoma (HCC), one of the most common cancers worldwide, largely depends on its detection at an early stage before symptoms develop. Screening patients with known cirrhosis, in whom the overall annual incidence of HCC develop ...

Hepatocellular carcinoma (HCC) is one of the most prevalent malignant diseases worldwide and has become a leading cause for cancer-related deaths in adults from Asia and sub-Saharan Africa (1). The DNA tumor virus hepatitis B virus (HBV) has been implicated to play a major causative role in the dev ...

Ever since the correlation was found between the pathogenesis of diseases and genomic alterations, molecular cytogenetic techniques have found a place in molecular medicine. These techniques are used in tracing gene and genomic abnormalities that are underlying in the development ...

The first reported recurring chromosome aberrations in B-cell chronic lymphocytic leukemia (B-CLL) were published in the early 1980s. Over the past 10 yr, a number of studies (1–4) as well as data from the International Workshop on Chromosomes in CLL (5) confirmed that the chromosomal changes in B ...