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Below are the first 10 and last 10 pages of uncorrected machine-read text (when available) of this chapter, followed by the top 30 algorithmically extracted key phrases from the chapter as a whole.
Intended to provide our own search engines and external engines with highly rich, chapter-representative searchable text on the opening pages of each chapter.
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OCR for page R1
Advances in Understanding Genetic Changes in Cancer: Impact on Diagnosis and Treatment Decisions in the 1990s
ADVANCES IN UNDERSTANDING GENETIC CHANGES IN CANCER
Impact on Diagnosis and Treatment Decisions in the 1990s
A Research Briefing from the Division of Health Sciences Policy
INSTITUTE OF MEDICINE
National Academy Press
Washington, D.C.
1992
OCR for page R2
Advances in Understanding Genetic Changes in Cancer: Impact on Diagnosis and Treatment Decisions in the 1990s
The Institute of Medicine was chartered in 1970 by the National Academy of Sciences to enlist distinguished members of appropriate professions in the examination of policy matters pertaining to the health of the public. In this, the Institute acts under both the Academy’s 1863 Congressional charter responsibility to be an advisor to the federal government, and its own initiative in identifying issues of medical care, research, and education.
Research briefings are an important part of the agreement between the Institute of Medicine and the Howard Hughes Medical Institute to initiate a program of studies that is intended to facilitate the translation of discoveries in basic science into advances for health. Of specific interest in the research briefings are the assessment of current knowledge in a particular field of study, identification of promising areas within that field, and recommendations about future research needs in terms of scientific issues. Although occasional recommendations are made regarding research policy, it is not the purpose of these briefings to advocate increases or decreases in current funding levels or to undertake a prioritization or comparative evaluation of other areas of scientific inquiry. The audience for research briefings is quite broad and includes grant administrators and project officers (government and nongovernment), physicians, science policy analysts, congressional staff, scientists, science journalists, and the interested lay public. Research briefing topics are selected by the Institute of Medicine in consultation with its membership, the IOM Council, and the Board on Health Sciences Policy.
Library of Congress Catalog Card No. 92-60001
International Standard Book Number 0-309-04688-2
Additional copies of this report are available from:
National Academy Press
2101 Constitution Avenue, N.W. Washington, D.C. 20418
S537
Printed in the United States of America
The serpent has been a symbol of long life, healing, and knowledge among almost all cultures and religions since the beginning of recorded history. The image adopted as a logotype by the Institute of Medicine is based on a relief carving from ancient Greece, now held by the Staatlichemuseen in Berlin.
OCR for page R3
Advances in Understanding Genetic Changes in Cancer: Impact on Diagnosis and Treatment Decisions in the 1990s
PANEL FOR THE RESEARCH BRIEFING ON ADVANCES IN UNDERSTANDING GENETIC CHANGES IN CANCER: IMPACT ON DIAGNOSIS AND TREATMENT DECISIONS IN THE 1990s
JANET D. ROWLEY (Co-Chair),
Department of Medicine and of Molecular Genetics and Cell Biology, University of Chicago, Chicago, Illinois
JEFFREY L. SKLAR (Co-Chair),
Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts
GARRETT M. BRODEUR,
Division of Hematology/Oncology, St. Louis Children's Hospital, St. Louis, Missouri
WEBSTER K. CAVENEE,
Ludwig Institute-Montreal Branch, Montreal, Quebec, Canada
BEVERLY F. EMANUEL,
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
STANLEY J. KORSMEYER,
Howard Hughes Medical Institute, St. Louis, Missouri
DANIEL PINKEL,
Division of Molecular Cytometry, University of California at San Francisco, San Francisco, California
DENNIS J. SLAMON,
Division of Hematology/Oncology, University of California at Los Angeles, Los Angeles, California
SANFORD A. STASS,
Division of Laboratory Medicine, M.D. Anderson Cancer Center, Houston, Texas
LOUIS C. STRONG,
Division of Pediatrics, M.D. Anderson Cancer Center, Houston, Texas
Rapporteur
JON C. ASTER,
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts
Institute of Medicine Staff
DAVID M. TURNER, Project Director,
Research Briefing
RUTH ELLEN BULGER, Director,
Division of Health Sciences Policy
SARAH A. ZIELINSKI, Project Assistant
RITA T. GIBSON, Administrative Assistant
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Advances in Understanding Genetic Changes in Cancer: Impact on Diagnosis and Treatment Decisions in the 1990s
Statement of Purpose
Committee for the Research Briefing on Advances in Understanding Genetic Changes in Cancer: Impact on Diagnosis and Treatment Decisions in the 1990s
The purpose of this committee was to conduct a research briefing to examine the utilization of genetic techniques for the diagnosis and prognosis of cancer and the impact of this utilization on diagnosis, prognosis, and treatment decisions. Research briefings are sponsored by the Howard Hughes Medical Institute and address three purposes: (1) to highlight a promising and exciting field of medical science; (2) to examine the current status of that field; and (3) to make scientific recommendations about future needs in the field. This research briefing is directed largely toward informing physicians of the rapid advances being made in this field.
OCR for page R5
Advances in Understanding Genetic Changes in Cancer: Impact on Diagnosis and Treatment Decisions in the 1990s
Contents
1
Introduction
1
Outline of Molecular Genetics
2
Brief Overview of Cancer Genetics
3
2
Testing for Tumor-Specific Genetic Markers
8
Microscopic Detection of Alterations in DNA Structure
9
In Situ Hybridization
12
Ploidy Analysis
15
Techniques for Detecting Changes in DNA Structure at the Submicroscopic Level
16
Southern Blot Hybridization
16
Pulsed-Field Gel Electrophoresis
18
Polymerase Chain Reaction
19
Techniques for Detection of Point Mutations in DNA
21
Techniques Directed at Analysis of RNA
22
Techniques for Analyzing Changes at the Protein Level
23
Immunohistochemistry
23
3
Hematologic Cancer
25
Chronic Myelogenous Leukemia
25
Chronic Lymphocytic Leukemia
32
Acute Lymphocytic Leukemia
32
Acute Myelogenous Leukemia
36
Myelodysplastic Syndromes
38
Lymphoma
39
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Advances in Understanding Genetic Changes in Cancer: Impact on Diagnosis and Treatment Decisions in the 1990s
4
Solid Tumors
45
Chromosomal Aberrations of Diagnostic Importance
47
Chromosomal Aberrations of Prognostic Importance
48
Neuroblastoma
48
Breast Cancer
50
Lung Cancer
52
Other Solid Tumors
53
Genetic Markers of Predisposition to Cancer
53
Retinoblastoma
53
Mapping of Other Cancer Predisposition Loci
55
Li-Fraumeni Syndrome
57
Loss of Heterozygosity in Sporadic Solid Tumors
58
Genetic Changes and Tumor Progression
59
Colorectal Neoplasms
59
Glial Tumors
61
Cancer-Associated Genetic Changes and Environmental Mutagens
62
Viral Markers in Cancer Diagnosis
62
5
Summary and Specific Recommendations
65
Practical Aspects of Genetic Analysis: From Patient to Diagnostic Laboratory
66
The Molecular Diagnostic Laboratory
67
Implications of Commercialization
67
Future Needs
68
6
References
69
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Advances in Understanding Genetic Changes in Cancer: Impact on Diagnosis and Treatment Decisions in the 1990s
ADVANCES IN UNDERSTANDING GENETIC CHANGES IN CANCER
OCR for page R8
Advances in Understanding Genetic Changes in Cancer: Impact on Diagnosis and Treatment Decisions in the 1990s
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