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 1960s using unbanded chromosome preparations by Nowell and Hungerford. A recurrent abnormality termed the Philadelphia chromosome (Ph) was identified in patients with chronic myeloid leukemia (CML). With the advent of banding techniques in the 1970s, 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, 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.


Lymphomas Solid Tumors


Chromosomal Abnormalities by Type


Deletions | Inversion/IsochromosomesTranslocations 1 | Translocations 2


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, CG(ASCP)CM, UW Cytogenetic Services

Questions, comments, suggestions or donations of chromsome abnormality images should be sent to the Cytogenetics Lab:


Last update : Dec 2014