Molecular cytogenetics: recent developments and applications in cancer

Abstract

Aneuploidy or alteration in chromosome numbers is a characteristic feature in cancer that is generally a consequence of defective chromosome segregation during cell division. Molecular cytogenetic analyses have conferred substantial evidence with regards to the chromosomal architectures in cancer. Most importantly, the fluorescence in situ hybridization (FISH) technique that plays a leading role in diagnostic pathology for its single-cell analysis has provided crucial information regarding genomic variations in malignant cells. Further development of molecular cytogenetic methodologies such as chromosome specific FISH karyotyping and comparative genomic hybridization have also helped in the detection of cryptic genetic changes in cancer. But, the recent advancement of high throughput sequencing technologies have provided a more comprehensive genomic analyses resulting in novel chromosome rearrangements, somatic mutations as well as identification of fusion genes leading to new therapeutic targets. This review highlights the application of early molecular cytogenetics and the recent high throughput genomic approaches in characterizing various cancers and their invaluable support in cancer therapeutics.

Finding mouse models of human lymphomas and leukemia's using the Jackson laboratory mouse tumor biology database

“…MTB incorporates information on the frequency/incidence, latency, and tissue of origin of mouse tumors and metastases, with all data linked to the original reference. MTB also includes pathology reports, and associated images, background genetics, somatic mutations, and links to tumor-related Comparative Genome Hybridization (CGH), Quantitative Trait Loci (QTL), and gene expression array data from the Gene Expression Omnibus (GEO), and the Array Express (Das and Tan, 2013; Edgar et al, 2002; Hunter and Crawford, 2008; Rustici et al, 2013). MTB enables integrated searches of data from diverse sources through the use of controlled vocabularies and standardized nomenclature.…”

How to count chromosomes in a cell: An overview of current and novel technologies

“…This protocol allows for the detection of whole chromosome copy number gains and losses, large amplifications, insertions, deletions, inversions, translocations, isochromosomes, and ring chromosomes (by assessing Giemsa chromosome banding patterns). Metaphase karyotyping can be combined with fluorescence in situ hybridization (FISH), for instance to detect common copy number variations (CNVs) or translocations such as the BCR‐ABL t(9;22)(q34;q11) translocation . FISH is a powerful tool for establishing cytogenetic abnormalities in patients and in pre‐implantation embryos in the clinic.…”

“…Finally, FISH requires technical expertise, and quantification is labor intensive because it is technically difficult to automate. This makes FISH a powerful tool for detecting recurrent chromosomal abnormalities in a standardized setting, but less suitable for the detection of random aneuploidies .…”

Identifying mouse models for skin cancer using the Mouse Tumor Biology Database

“…Detailed pathology reports, and associated images are also available. In addition, MTB includes data on the genetics of the background strain and somatic mutations in the tumors including Spectral Karyotyping (SKY), Comparative Genome Hybridization (CGH), Quantitative Trait Loci (QTL) associated with cancers, and indexes gene expression array data for mouse tumors from the Gene Expression Omnibus (GEO) and the Array Express (16–19). All data are attributed to the original source.…”