Basic Research and Clinical Aspects of Adamantinomatous Craniopharyngioma

223 Pages·2017·6.36 MB·English

by  Juan Pedro Martinez-Barbera

Juan Pedro Martinez-Barbera
Cynthia Lilian Andoniadou Editors
Basic Research and
Clinical Aspects of
Adamantinomatous
Craniopharyngioma
Basic Research and Clinical Aspects
of Adamantinomatous Craniopharyngioma
Juan Pedro Martinez-Barbera
Cynthia Lilian Andoniadou
Editors
Basic Research
and Clinical Aspects
of Adamantinomatous
Craniopharyngioma
Editors
Juan Pedro Martinez-Barbera Cynthia Lilian Andoniadou
Developmental Biology and Cancer Craniofacial Development and Stem
Programme Cell Biology
Birth Defects Research Centre King’s College London
Institute of Child Health London, UK
University College London
London, UK
ISBN 978-3-319-51888-6 ISBN 978-3-319-51890-9 (eBook)
DOI 10.1007/978-3-319-51890-9
Library of Congress Control Number: 2017933569
© Springer International Publishing AG 2017
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Preface
This edited book, Basic Research and Clinical Aspects of Adamantinomatous
Craniopharyngioma, aims to present an up-to-date picture of the current efforts for
the effective treatment and management of the paediatric tumour adamantinomatous
craniopharyngioma (ACP) and how patient management can be tailored in the future.
The book was triggered by a lack of comprehensive publications bringing
together a global view of all relevant aspects of these tumours. Here we bring a
multidisciplinary group of international experts that present the current views on
ACP diagnosis and management, as well as recent research generating mouse mod-
els for these tumours and yielding findings that have the potential to impact on
future patient treatments.
The first two chapters of this book focus on the pathogenesis of human ACP and
the molecular analyses that have been carried out in the tumours to date. The next
chapter provides an overview of the available models for human ACP and the
insights gained from animal research. Chapters focus on the diagnosis and manage-
ment of ACP patients as well as the clinical sequelae associated with the disease.
Finally, the last chapter provides an overview of the current clinical trials and the
long-term management of ACP patients.
The intended audience of this book will consist of clinical students and practitio-
ners as well as basic researchers studying pituitary tumourigenesis.
We would like to convey our appreciation to all authors who have contributed
chapters and to the team at Springer for their expert support throughout this process.
London, UK Juan Pedro Martinez-Barbera
Cynthia Lilian Andoniadou
v
Contents
Pathogenesis of Human ACP .......................................................................... 1
Annett Hölsken
Transcriptomic and Genomic Analyses of Human Craniopharyngioma ..... 27
Leslie Robinson, Sandro Santagata, and Todd C. Hankinson
Genetically Modified Mouse Models of Adamantinomatous
Craniopharyngioma ........................................................................................ 41
Cynthia Lilian Andoniadou and Juan Pedro Martinez-Barbera
Clinical Diagnosis of Human ACP ................................................................. 57
Ashley J. Vardon and Niki Karavitaki
Endocrine Deficits in Patients with Human Craniopharyngioma .............. 67
Hoong-Wei Gan, Helen A. Spoudeas, and Mehul T. Dattani
Obesity and Metabolic Disturbances in Adamantinomatous
Craniopharyngioma Patients ......................................................................... 85
Eva Marie Erfurth
Radiology and Radiotherapy of Craniopharyngioma ................................. 101
Babita Jyoti, Daniel J. Indelicato, Julie A. Bradley, and Ronny L. Rotondo
Surgical Treatment of Human ACP ............................................................... 137
Kristian Aquilina and Michael Buchfelder
Intracystic Administration of Interferon- Alpha for Reduction
of Cystic Tumour Burden ............................................................................... 159
John-Paul Kilday and Ute Bartels
Long-Term Management and Clinical Trials in Adamantinomatous
Craniopharyngioma ........................................................................................ 179
Hermann L. Müller
Index ................................................................................................................. 215
vii
About the Editors
Dr. Cynthia Lilian Andoniadou is a stem cell researcher and lecturer at the
Department of Craniofacial Development and Stem Cell Biology of King’s College
London focusing on the biology of normal and pathogenic pituitary stem cells.
Professor Juan Pedro Martinez-Barbera is a leading expert in pituitary develop-
ment and associated congenital disorders. He is a researcher at the Birth Defects
Research Centre, Developmental Biology and Cancer Programme of the UCL Great
Ormond Street Institute of Child Health.
ix
Contributors
Cynthia Lilian Andoniadou Craniofacial Development and Stem Cell Biology,
King’s College London, London, UK
Kristian Aquilina Department of Neurosurgery, Great Ormond Street Hospital for
Children, London, UK
Ute Bartels Department of Oncology, The Hospital for Sick Children, Toronto,
ON, Canada
Julie  A.  Bradley University of Florida Health Proton Therapy Institute,
Jacksonville, FL, USA
Michael Buchfelder Department of Neurosurgery, University Hospital Erlangen,
Erlangen, Germany
Mehul T. Dattani Genetics and Genomic Medicine Programme, UCL Great
Ormond Street Institute of Child Health, London, UK
The London Centre for Paediatric Endocrinology and Diabetes, Great Ormond
Street Hospital for Children NHS Foundation Trust, London, UK
Eva Marie Erfurth Department of Endocrinology, Skånes University Hospital,
Lund, Sweden
Department of Clinical Sciences, Medical Faculty of Lund University, Lund, Sweden
Hoong-Wei  Gan Genetics and Genomic Medicine Programme, UCL Great
Ormond Street Institute of Child Health, London, UK
The London Centre for Paediatric Endocrinology and Diabetes, Great Ormond
Street Hospital for Children NHS Foundation Trust, London, UK
Todd  C.  Hankinson Children’s Hospital Colorado, Pediatric Neurosurgery,
Aurora, CO, USA
Annett Hölsken University Hospital, Friedrich—Alexander University Erlangen-
Nürnberg (FAU), Erlangen, Germany
xi
xii Contributors
Daniel  J.  Indelicato University of Florida Health Proton Therapy Institute,
Jacksonville, FL, USA
Babita Jyoti University of Florida Health Proton Therapy Institute, Jacksonville,
FL, USA
Niki Karavitaki Institute of Metabolism and Systems Research (IMSR), College of
Medical and Dental Sciences, University of Birmingham and Centre for Endocrinology,
Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
John-Paul  Kilday Department of Oncology, Royal Manchester Children’s
Hospital, Manchester, UK
Juan Pedro Martinez-Barbera Developmental Biology and Cancer Programme,
Birth Defects Research Centre, Institute of Child Health, University College
London, London, UK
Hermann L. Müller Department of Pediatrics and Pediatric Hematology and
Oncology, Klinikum Oldenburg AöR, Medical Campus University Oldenburg,
Oldenburg, Germany
Leslie Robinson Children’s Hospital Colorado, Pediatric Neurosurgery, Aurora,
CO, USA
Ronny  L.  Rotondo University of Florida Health Proton Therapy Institute,
Jacksonville, FL, USA
Sandro Santagata Brigham and Women’s Hospital, Department of Pathology,
Harvard Institute of Medicine, Boston, MA, USA
Helen A. Spoudeas The London Centre for Paediatric Endocrinology and Diabetes,
Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
Ashley J. Vardon Institute of Metabolism and Systems Research (IMSR), College of
Medical and Dental Sciences, University of Birmingham and Centre for Endocrinology,
Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Pathogenesis of Human ACP
Annett Hölsken
Abstract In 2002 J.T. Rutka stated in an editorial commentary that: “There is per-
haps no other primary brain tumour that evokes more passion, emotion, and, as a
result, controversy than does the craniopharyngioma”. This statement clarifies the
situation of medical specialists such as endocrinologists, neurosurgeons, neuropa-
thologists, neurooncologists, paediatric oncologists and neuro-radiologists involved
in treatment of craniopharyngioma (CP) patients. Although CPs are classified by the
WHO as benign tumours, their size and relationship to multiple critical structures
can incur massive clinical complications. Here we elucidate the histological and
genomic hallmarks, setting adamantinomatous (ACP) apart from papillary cranio-
pharyngiomas (PCP). In addition, molecular mechanisms that we already know to
be involved in the pathogenesis of ACP, e.g. Wnt, SHH and EGFR signalling influ-
encing proliferation, morphology, migration and recurrence by the establishment of
a presumably tumour stem cell niche, are discussed. Our understanding of the driv-
ing force of ACP tumourigenesis opens new avenues for targeted treatment options,
e.g. the inhibition of the EGFR.
Keywords Wnt • EGFR • SHH • CD44 • CD133 • Cytokeratin • p21 • BMP4 • Ki-
67 • β-catenin mutation
Definition and Historical Notes
As defined in the World Health Organisation (WHO) classification of Tumours of
the Central Nervous System (CNS) “craniopharyngiomas (CPs) are benign, partly
cystic epithelial tumours of the sellar region presumably derived from Rathke’s
pouch epithelium” [1, 2].
A. Hölsken (*)
University Hospital, Friedrich—Alexander University Erlangen-Nürnberg (FAU),
Erlangen, Germany
e-mail: [email protected]
© Springer International Publishing AG 2017 1
J.P. Martinez-Barbera, C.L. Andoniadou (eds.), Basic Research and Clinical
Aspects of Adamantinomatous Craniopharyngioma,
DOI 10.1007/978-3-319-51890-9_1