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Cancer genetics, cytogenetics—defining the enemy within

Nature Medicine volume 4, pages 1107–1111 (1998)Cite this article

Suggestions of a significant relationship between chromosome abnormalities and tumor development came first from several German pathologists in the late nineteenth century1. It was, however, the biologist Theodor Boveri, who worked with sea urchins, not tumors, who first posited several hypotheses (subsequently proved correct) on the importance of somatic genetic changes in tumor development2. Boveri observed developmental defects in sea urchins with mitotic abnormalities and suggested that mammalian tumors might be similarly initiated by aneuploid chromosome complements. Remarkably, he also suggested the importance of genetic instability in tumor cell populations, the possible unicellular origin of tumors and the significance of specific chromosomal or submicroscopic changes. Unfortunately these hypotheses preceded the techniques required to test them and so Boveri's concepts lay dormant for several decades.

In the 1930s and 1940s a few studies in both experimental and human tumors did suggest that chromosome numbers were usually abnormal in neoplastic cells and the concept of a 'stemline' or clonal nature of tumors, with acquisition of additional genetic changes over time, was explored, primarily in transplantable rodent tumors1. However the 'modern' era of cytogenetics did not begin until the mid 1950s when improved cell culture and slide preparation techniques made it possible to accurately enumerate the number of human chromosomes as 46.

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Authors and Affiliations

  1. Department of Pathology & Laboratory Medicine University of Pennsylvania School of Medicine, Philadelphia, 19104-6082, PA

    Peter Nowell

  2. Department of Molecular Genetics & Cell Biology University of Chicago Medical Center, 5841 Maryland Ave, Chicago, 60637, IL

    Janet Rowley

  3. Fox Chase Cancer Center, Philadelphia, 19111, PA

    Alfred Knudson Jr.

Authors
  1. Peter Nowell
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  2. Janet Rowley
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  3. Alfred Knudson Jr.
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Nowell, P., Rowley, J. & Knudson, A. Cancer genetics, cytogenetics—defining the enemy within. Nat Med 4, 1107–1111 (1998). https://doi.org/10.1038/2598

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