Cancer Cytogenetics: Methodology Revisited

Abstract

The Philadelphia chromosome was the first genetic abnormality discovered in cancer (in 1960), and it was found to be consistently associated with CML. The description of the Philadelphia chromosome ushered in a new era in the field of cancer cytogenetics. Accumulating genetic data have been shown to be intimately associated with the diagnosis and prognosis of neoplasms; thus, karyotyping is now considered a mandatory investigation for all newly diagnosed leukemias. The development of FISH in the 1980s overcame many of the drawbacks of assessing the genetic alterations in cancer cells by karyotyping. Karyotyping of cancer cells remains the gold standard since it provides a global analysis of the abnormalities in the entire genome of a single cell. However, subsequent methodological advances in molecular cytogenetics based on the principle of FISH that were initiated in the early 1990s have greatly enhanced the efficiency and accuracy of karyotype analysis by marrying conventional cytogenetics with molecular technologies. In this review, the development, current utilization, and technical pitfalls of both the conventional and molecular cytogenetics approaches used for cancer diagnosis over the past five decades will be discussed.

An Integrative Framework for Detecting Structural Variations in Cancer Genomes

“…Several methods are currently used to identify structural variations in cancer genomes. G-band karyotyping has been the major method historically to detect gross structural anomalies in the genome, and it is routinely performed today clinically for certain malignancies such as leukemia 8 . However, karyotyping is an inherently low resolution and low throughput method that cannot adequately characterize extensively rearranged genomes.…”

A Practical Guide for Structural Variation Detection in the Human Genome

“…Karyotyping ( Fig. 2A) is the most common cytogenetic testing technique (Wan, 2014). Dividing cells are required to view condensed chromosomes at metaphase.…”

Potential Clinical Application of Genomics in Multiple Myeloma

“…Karyotyping was the earliest technique used to study the MM genome and remains an important part of clinical practice today [ 1 ]. This technique involves the culture of bone marrow cells followed by the harvest of metaphase chromosomes and induction of mitotic arrest with colcemid or colchicine treatment [ 2 ]. The most common technique used for chromosome staining is G-banding, which involves the treatment of the chromosomes with trypsin followed by Giemsa staining [ 3 ].…”