Chromosomal Abnormalities in Cancer

Karyotypic changes of tumor cells are unevenly distributed throughout the genome, and specific chromosomes, regions, and bands seem to be preferentially involved in the different neoplasia. A steadily increasing number of abnormalities are found to be associated with particular diseases or disease subtypes. This clinical cytogenetic correlation became evident in the 1960's using unbanded chromosome preparations by Nowell and Hungerford. A recurrent abnormality termed the Philadelphia chromosome (Ph) was identified in patients with CML. With the advent of banding techniques in the 1970's, this correlation was confirmed and expanded. Research of the breakpoints involved in rearrangements has resulted in identification of many of the genes involved in neoplasia and provided a better understanding of the disease processes and is leading to targeted treatments for many diseases.

On these following pages, we have tried to give examples of the major types of neoplasms, both hematologic and non-hematologic. Where possible, we have provided examples of the chromosomal abnormality associated with each disorder.

Chromosomal Abnormalities by Type:

Deletions

Isochromosomes/Inversions

Translocations

Last update : Oct 2006

Credits:

Clinical description of disorders: Dr. Diane H. Norback, MD - , University of Wisconsin Clinical Science Center

Clinical description of solid tumors: Dr. G. Reza Hafez, MD - University of Wisconsin Surgical Pathology Dept.

Lists of abnormalities: Sara Morrison-Delap, BS - UW Cytogenetic Services ( edited from "Cancer Cytogenetics.", S. Heim, F. Mitelman - , 2nd Ed. )

Site creation, page layout, image collection: Eric B. Johnson, BS, CLSp(CG) - UW Cytogenetic Services (formerly Waisman Center Cytogenetics Laboratory)

Questions, comments, suggestions or donations of chromsome abnormality images should be sent to the Cytogenetics Lab (cytogenetics@mail.slh.wisc.edu)