Sverre Heim - Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics

1. Chapter 6
2. Chapter 7
3. Chapter 9

1. Chapter 2
2. Chapter 3
3. Chapter 4
4. Chapter 5
5. Chapter 6
6. Chapter 7
7. Chapter 8
8. Chapter 9
9. Chapter 10
10. Chapter 11
11. Chapter 12
12. Chapter 13
13. Chapter 14
14. Chapter 15
15. Chapter 16
16. Chapter 17

Sverre Heim
The Radium Hospital and University of Oslo, Norway

Felix Mitelman
University Hospital and University of Lund, Sweden

This edition first published 2022
2022 John Wiley & Sons Ltd

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In 1956, when we were still very young, the chromosome number of humans changed from 48 to 46. Not correct, some may counter, no such thing happened, only a previous misconception was rectified when better cytogenetic analyses were brought to bear. Of course they are right, those who maintain that the change was one of knowledge, not biology itself; no example of saltational evolution was witnessed, no actual sudden leap in the everlasting development of our species took place. And yet one wonders: How many other, vaguely similar mistakes form part of our current picture of the human genome during health and disease in spite of the tremendous strides forward taken by science during the last century?

Human cytogenetics came of age during the latter part of the twentieth century with regard to both investigations of the constitutional human karyotype and the acquired chromosomal abnormalities that characterize neoplastic cells. The two authors of this book have worked scientifically as well as clinically within cancer cytogenetics during much of this period. Our own investigations and findings were made public in numerous articles. In four books, all entitled Cancer Cytogenetics and published between 1987 and 2015, we tried to overview the field. With each year and publication, the status praesens of cancer cytogenetics changed.

The purpose of the present book is different. Instead of concentrating on presenting in considerable detail the current body of cytogenetic knowledge as applied to neoplastic conditions, we also want to look backward as well as forward, to the past as well as the future. How did the study of chromosome aberrations in neoplastic cells develop? What modes of thinking and technological advances paved the way for the cytogenetic discoveries that were seminal in forming today's understanding of how cancer develops, how it should be diagnosed, the prognostic impact of various genomic aberration patterns, and, not least, which treatment should be chosen?

We try to be fair in our coverage of what happened, but of course the story we tell is colored by what we have found interesting over the years, what we see as important. Inevitably, others may have viewed the same events in a different light and would, hence, weigh the available information differently. This is always the case when stories, even scientific ones, are told, for science is by no means exempt from the various personal imprints and biases that characterize all written accounts.

On the other hand, we have no particular ax to grind; at least, we are not ourselves aware of any such bias be it scientific or otherwise. Whether those who read will agree with us or not is a different matter. Readers and writers alike have a tendency to tinge any text according to their own experience and underlying preferences, a fact better acknowledged up front.

When covering the present role of cancer cytogenetics (the second part of the book) and, even more difficult, trying to extrapolate from what is into what will be (Part Three), perspective becomes even more crucial. We choose to focus on three areas in particular: How cancer cytogenetic analyses contribute to a better understanding of tumorigenesis, how they are of value clinically, and how they meet, interact with, and crossfertilize other investigative technologies, in particular those of molecular genetics.