细胞技术

Analysis of genetic altera tion in circulating DNA can have clinical utility in predicting disease outcome. Loss of heterozygosity (LOH) of DNA microsatellites has been shown to occur commonly among all chromosomes in various cancers, such as melanoma, breast cancer, and lung cancer. In this ...

Dideoxy DNA sequencing is routinely used in research and, increasingly, in clinical care for the detection of DNA sequence variants, single nucleotide changes, or small insertions or deletions, when the spectrum of DNA variation is unknown. DNA sequence variation can be present in tumor tis ...

Numerous innovative and high-throughput techniques have been established to identify human disease genes. However, DNA sequencing of candidate genes still remains as a major limitation in the identification of causative mutations. Much of this limitation is due to the time and labor ne ...

Clear identification among early-stage cancer patients of those at highest risk of having metastatic disease would be of great benefit in treatment planning and management. Considerable additional benefit would accrue to high-risk patients if their responses to specific therap ...

As companion diagnostics grow in prevalence and importance, the need for accurate assessment of in situ protein concentrations has increased. Traditional immunohistochemistry (IHC), while valuable for assessment of context of expression, is less valuable for quantification. ...

Tissue microarrays are a platform of condensed histopathology that has revolutionized the translation of basic science to clinical utility. Tissue microarrays have resulted in a paradigm shift from histopathology to immunopathology and moved analysis of small selected sampl ...

Enzyme-linked immunosorbent assay (ELISA) microarrays promise to be a powerful tool for the detection and validation of disease biomarkers. ELISA microarrays are capable of simultaneous detection of many proteins using a small sample volume. Although there are many potential pitf ...

Genetic abnormalities in leukaemia range from single gene defects to chromosomal translocations, inversions, losses and gains. While conventional technologies can detect macroscopic abnormalities, finding smaller regions remained a challenge until the recent introdu ...

Comparative genomic hybridization (CGH) is arguably the most significant technical development in the molecular cytogenetics era, and has contributed considerably to our further understanding of the cancer genome. In essence, DNA from a cancer specimen (test DNA) labeled with the f ...

Minimal residual disease (MRD) diagnostics has proven to be clinically relevant for evaluation of treatment effectiveness in patients with acute lymphoblastic leukemia (ALL). In most ALL treatment protocols, MRD diagnostics is performed by real-time quantitative PCR (RQ-PCR) a ...

Translocations and other rearrangements of the MLL gene at chromosome band 11q23 are biologically and clinically important molecular abnormalities in infant acute leukemias, leukemias associated with chemotherapeutic topoisomerase II poisons and, less often, acute leuk ...

The human MLL gene is one of the most promiscuous recombination hot spots of our genome with regard to the onset of malignant diseases. With the exception of gene internal partial-tandem duplications involving several exons located in the 5′-end of MLL, all recombination events occur in a small ge ...

Fluorescence in situ hybridization (FISH) provides one of the few ways of analysing the genotype of individual cells, an important consideration for mixed cell populations such as those found in leukaemia. A more sophisticated variation combines fluorescence immunophenotyping ...

Cytogenetics is integral to the diagnosis of childhood leukaemia, particularly in relation to the risk stratification of patients for treatment. Fluorescence in situ hybridization (FISH) has become an important complementary technique, expanding chromosomal analysis into ...

Many of the acquired genetic changes that contribute to the molecular pathogenesis of leukemia are well characterized. The relative simplicity of the tumor genetics of the common subtypes of leukemia and the availability of archived material in the form of archived neonatal blood spots ( ...

Disruption of epigenetic regulators of transcription is a central mechanism of oncogenesis. Many of the advances in the understanding of these mechanisms are attributable to the successful development of chromatin immunoprecipitation (ChIP) for in vivo detection of histone mod ...

Aberrant distribution of cytosine methylation in cancer has been linked to deregulation of gene expression and genomic instability. DNA methylation changes in cancer include both hyper and hypomethylation, and the precise localization of these changes is directly related to the im ...

Acute leukemia is an aggressive form of hematological malignancy, which is characterized and classified into different subtypes according to the morphology and immunophenotype of the leukemic blasts. However in the past decade, it became clear that it is the genetic makeup and probably ...

In mammals the HOX network consists of 39 genes which encode master regulators of developmental processes including hematopoiesis. Many of the chromosomal translocations associated with acute leukemias involve HOX genes directly or some of their regulatory factors, e.g., mixed li ...

The two-hybrid system is a genetic method to search for and to identify direct interaction partners of a protein of interest. This method is instrumental to elucidate the transformation mechanism of several oncogenes that play a role in childhood leukaemia. With respect to mixed lineage leu ...