Precision Medicine in Gynecology and Obstetrics

251 Pages·2017·7.254 MB·English

by  Ikuo Konishi (eds.)

Comprehensive Gynecology and Obstetrics
Ikuo Konishi
Editor
Precision
Medicine in
Gynecology
and Obstetrics
Comprehensive Gynecology and Obstetrics
Series Editors
Ikuo Konishi
National Kyoto Medical Center
Kyoto
Japan
Hidetaka Katabuchi
Department of Obstetrics and Gynecology
Kumamoto University
Kumamoto
Japan
This series presents the current and future perspectives of medical science in
gynecology and obstetrics. The authors fully describe the current understanding of
a disease including clinical features, imaging, pathology, and molecular biology,
and also include the historical aspects and theories for exploring the etiology of the
disease. Also, recent developments in diagnostic strategy, medical treatment,
surgery, radiotherapy, prevention, and better health-care methods are clearly shown.
Thus, each volume in the series focuses on the scientific basis for the pathogenesis
of a disease and provides clinical applications that make it possible to offer
personalized treatment for each patient. Over the past 20 years, physicians have
been working to develop a standard treatment and publish clinical guidelines for a
disease based on epidemiological evidence, mainly through the use of randomized
clinical trials and meta-analyses. Recently, however, comprehensive genomic and
genetic analyses have revealed the differences and variations in biological
characteristics even among patients with the same diagnosis and have been focusing
on personalized therapy. Now all physicians and patients are entering a new world
of “precision medicine” through the use of genomic evidence. We are confident that
readers will greatly benefit from the contents of the series with its purview of the
exciting and promising future of gynecology and obstetrics.
More information about this series at http://www.springer.com/series/13621
Ikuo Konishi
Editor
Precision Medicine
in Gynecology and
Obstetrics
Editor
Ikuo Konishi
National Kyoto Medical Center
Kyoto
Japan
ISSN 2364-1932 ISSN 2364-219X (electronic)
Comprehensive Gynecology and Obstetrics
ISBN 978-981-10-2488-7 ISBN 978-981-10-2489-4 (eBook)
DOI 10.1007/978-981-10-2489-4
Library of Congress Control Number: 2017943090
© Springer Science+Business Media Singapore 2017
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Preface
With recent significant advances in gynecology and obstetrics, physicians now
face a new era of clinical medicine and decision making in daily practice.
Beginning in the 1980s, the idea of evidence-based medicine (EBM) was intro-
duced in clinical practice and medical education, the appropriate treatment modal-
ity for patients being based on clinical epidemiology. Various treatment guidelines
have been published according to such epidemiological evidence along with the
consensus of experts. Because the strongest evidence has been obtained from ran-
domized clinical trials (RCTs) and meta-analyses, many physicians and patients
have enthusiastically been involved in those RCTs. Thus, we have been living in
the era of “epidemiology evidence-based medicine”. Although the ideal treatment
should be specialized for a patient after considering the specific nature of the dis-
ease and the desire of each patient, we first present to the patient the standard
treatment in the guidelines, which may be appropriate for the patient but some-
times is not, due to the heterogeneity of the disease. For years, therefore, physi-
cians have been looking intently for a strategy to personalize the treatment for
each patient. In the twenty- first century, we have gradually been approaching an
era of new EBM, which is “genome evidence-based medicine”. The advance of
comprehensive genomic analyses using next-generation sequencing (NGS) and
gene expression profiling using DNA microarray along with bioinformatics has
revealed the diversity of genome, epigenome, and expression profiles of disease.
Development of novel drugs and technologies has made it possible to indicate the
specific treatment according to the specific genomic nature of the disease in a
patient. Thus, physicians are pleased to face this new era of “precision medicine”
for clinical practice and decision making. This book presents the current perspec-
tive on precision medicine in the field of gynecology and obstetrics. The authors
have made great efforts to update the scientific evidence in each field, and I would
like to express my sincere thanks to all of them for the successful contribution of
their chapters. I am also grateful to Ms. Yoko Arai at Springer Japan for her kind
co-operation with me for the publication of this book.
Kyoto, Japan Ikuo Konishi, M.D., Ph.D.
v
Contents
1 Toward Precision Medicine in Gynecology and Obstetrics. . . . . . . . . . . 1
Ikuo Konishi
2 Genomics in Gynecological Cancer: Future Perspective . . . . . . . . . . . . 9
Takeshi Motohara and Hidetaka Katabuchi
3 Signal Transduction and Targeted Therapy
for Gynecologic Cancer . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 23
Hiroaki Itamochi and Toru Sugiyama
4 Immunotherapy for Gynecologic Cancer . . . . . . . . . . . . . . . . . . . . . . . . 69
Masaki Mandai, Junzo Hamanishi, Kaoru Abiko,
Noriomi Matsumura, Tsukasa Baba, and Ikuo Konishi
5 Prevention of Cervical Cancer: Era of HPV
Testing and Vaccination . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 87
Kazuhiko Ino
6 Pathology, Genomics, and Treatment of Endometrial Cancer . . . . . . 101
Tsukasa Baba
7 Diversity in Pathology and Genomics in Ovarian Cancer . . . . . . . . . 117
Noriomi Matsumura
8 Hereditary Ovarian and Endometrial Cancers:
Current Management . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 127
Akira Hirasawa and Daisuke Aoki
9 Molecular Pathology and Novel Therapy for Uterine Sarcomas . . . . 137
Takuma Hayashi, Kenji Sano, Tomoyuki Ichimura, Miki Kawano,
Yae Kanai, Tanri Shiozawa, Nobuo Yaegashi, and Ikuo Konishi
10 Recurrent Pregnancy Loss: Current Evidence
and Clinical Guideline . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 151
Mayumi Sugiura-Ogasawara
vii
viii Contents
11 Genomic Approach for Recurrent Pregnancy Loss:
Prevention Feasible? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 165
Aisaku Fukuda
12 Prenatal Diagnosis of the Human Embryo and Fetus . . . . . . . . . . . . . 181
Shigehito Yamada and Hidehiko Miyake
13 Pathology and Genomics in Gestational Trophoblastic Neoplasia . . . 191
Sachiko Minamiguchi and Janice M. Lage
14 Pathogenesis of Preeclampsia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 211
Eiji Kondoh
15 Molecular Mechanisms of Preterm Delivery . . . . . . . . . . . . . . . . . . . . 225
Haruta Mogami
16 Developmental Origins of Health and Diseases (DOHaD):
Perspective Toward Preemptive Medicine . . . . . . . . . . . . . . . . . . . . . . 237
Hiroaki Itoh and Naohiro Kanayama
Toward Precision Medicine 1
in Gynecology and Obstetrics
Ikuo Konishi
Abstract
This chapter is an introduction to the contents of this book on precision medicine
in gynecology and obstetrics, describing “where are we now, and where should
we go” with regard to evidence-based medicine (EBM). At the end of the twen-
tieth century, we faced a drastic change in clinical medicine, i.e., a big wave of
EBM which was the application of epidemiology to clinical decision making.
Standard treatment under the guidelines based on epidemiologic evidence is very
useful in our daily clinical practice. Such treatment is appropriate for more than
half of patients, but it may not benefit the remaining patients owing to the hetero-
geneity of disease. However, recent advances in medical technologies is clearly
disclosing the diversity of disease with regard to the differences in genome, epig-
enome, and expression profiling. Medical treatment has been personalized
according to the specific, genomic nature of the patient. Thus, the second big
wave of EBM, which is genome-based personalized medicine, started at the
beginning of the twenty-first century and is now expanding as “precision medi-
cine”. Here we see the current and future perspectives on precision medicine in
gynecology and obstetrics, namely, genome evidence-based personalized medi-
cine, clinical practice, and decision making.
Keywords
Evidence-based medicine (EBM) • Clinical epidemiology • Personalized
medicine • Genomics • Whole-genome sequencing • Gene-expression profiling
Precision medicine
I. Konishi, M.D., Ph.D.
National Kyoto Medical Center, Kyoto, Japan
e-mail: [email protected]
© Springer Science+Business Media Singapore 2017 1
I. Konishi (ed.), Precision Medicine in Gynecology and Obstetrics,
Comprehensive Gynecology and Obstetrics, DOI 10.1007/978-981-10-2489-4_1
2 I. Konishi
1.1 Introduction
Physicians know a priori that there should be one best treatment for the patient who
lies down in front of them, and have earnestly been seeking it among the various
available modalities. Because physicians also are aware of the heterogeneity of dis-
ease among patients, even after the same clinical diagnosis is made, they try to shed
light on the specific nature of the disease for a particular patient, using clinical his-
tory, physical examination, laboratory tests, histopathology, and imaging. To explore
the right treatment strategy for the patient, it is also important to consider the patho-
physiology of the patient’s disease, study the principles and theories about the dis-
ease, and review the empirically employed treatment modalities and previous case
reports. Advice from experienced professors and experts are very useful. Collecting
all these data, we discuss the patient at a clinical conference, finally decide the most
appropriate course for this specific patient, and then explain it to the patient and the
family. Under such conditions, both physicians and patients reach a consensus. All
of them seem to be happy under such an ideal doctor–patient relationship.
1.2 Evidence (Clinical Epidemiology)-Based
Medicine Era Since the 1980s
Since the 1980s, however, the term “evidence-based” has been introduced in clini-
cal decision making, guidelines and policies, and medical education [1]. As early as
1972, Archie Cochrane reported that many practices that had previously been
assumed to be effective were not supported by controlled clinical trials [2]. In 1987,
David Eddy first used the term "evidence-based" and expanded in his work on clini-
cal practice guidelines and policies [3]. Alvin Feinstein, David Sackett, and others
also claimed the importance of clinical epidemiology in decision making by physi-
cians [4]. The term “evidence-based medicine (EBM)” has also been introduced in
medical education. In 1990, Gordon Guyatt first used EBM at McMaster University
for new medical students [1], and later published it as a new approach to teaching
the practice of medicine. Such a big wave of EBM became popular in order to make
individual clinical practice more objective by reflecting the evidence and required
the application of population-based data to individual patient care. At that time,
however, it was also emphasized that practitioners’clinical expertise should be
reflected in efficient diagnosis and deep thought about the rights and preferences of
individual patients [4]. Thus, during the 1990s, EBM gradually was established as a
scientific approach for medical practice and decision making based on clinical
epidemiology.
EBM further developed by classifying evidence levels by epidemiological
strength, and now requires that only the strongest levels based on data obtained by
randomized controlled trials (RCTs), meta-analyses, and systematic reviews can
produce the strongest recommendations [5]. Opinions by experienced experts or
case studies have been regarded as weaker levels [6]. Then EBM expanded to the
design of clinical guidelines and policies that apply to patients and populations and