FAMILIAL BRAIN TUMOURS. A Commented Register

Transcription

1 FAMILIAL BRAIN TUMOURS A Commented Register

2 DEVELOPMENTS IN ONCOLOGY 9 Other titles in this series: 1. Cleton F.J. and Simons J.W.I.M. (eds): Genetic Origins of Tumor Cells ISBN Aisner J. and Chang P. (eds): Cancer Treatment Research ISBN Ongerboer de Visser B.W., Bosch D.A. and van Woerkom-Eykenboom W.M.H. (eds): Neuro Oncology: Clinical and Experimental Aspects ISBN X 4. Hellmann K., Hilgard P., Eccles S. (eds): Metastasis: Clinical and Experimental Aspects ISBN Seigler H.F. (ed): Clinical Management of Melanoma ISBN Correa P. (ed): Epidemiology of Cancer of the Digestive Tract ISBN Liotta L.A. and Hart I.R. (eds): Tumor Invasion and Metastasis ISBN Banoczy, J.: Oral Leukoplakia ISBN

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4 IV The frontispiece is a reproduction of the coloured lithograph illustrating fascicle 8 of Jean Cruvei1hier's famous atlas Anatomie pathologique du corps humain (J.B. Bai11iere, Paris, ). Figure 3 clearly represents a meningioma. (Courtesy of the Bib1iotheque Charcot, Paris) Authors' note: Examples of other early representations of tumours such as pontine glioma and pontine angle tumour are found in Charles Bell's The nervous system of the human body (Longmans, London, 1830). Possibly the earliest drawing of an (unspecified) brain tumour ever published may be found in V. Chiarugi's Della pazzia in genere (L. Car1ieri, Firenze, 1794).

5 FAMILIAL BRAIN TUMOURS A Commented Register Cornel is C. Tijssen, M.D. Department of Neurology Municipal Hospitals / The Hague, The Netherlands Michael R. Halprin.M.D. Psychiatric Hospital Rosenburg The Hague, The Netherlands Lambertus J. Endtz, M.D. Department of Neurology Municipal Hospitals / The Hague, The Netherlands with an introductory chapter by F.J. eleton, M.D. Professor of Medical Oncology University of Leyden / Leyden, The Netherlands 1982 Martinus Nijhoff Publishers The Hague / Boston / London

6 VI Distributors: for the United States and Canada Kluwer Boston, Inc. 190 Old Derby Street Hingham, MA USA for all other countries Kluwer Academic Publishers Group Distribution Center P.O. Box AH Dordrecht The Netherlands library of Congress Cataloging in Publication Data Tijssen, Cornelis C. Familial brain tumours. (Developments in oncology ; v. 9) 1. Bra~n-"'l'umors--Genetic aspects.. 2. Familial diseases. I. Halprin, Michael R. II. Endtz, Larrbertus J. III. Title. IV. Series. [DNLM: 1. Brain neoplasms--familial and genetic --Case studies. 2. Registries. WI DE998N v. 9 WL 358 T568f] RC280.B7T ' ISBN-13: e-isbn-j3: DOl: / Copyright 1982 by Martinus Nijhoff Publishers, The Hague. Softcover reprint of the hardcover 1st edition 1982 All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, mechanical, photocopying, recording, or otherwise, without the prior written permission of the publisher, Martinus Nijhoff Publishers, P.O. Box 566, 2501 CN The Hague, The Netherlands.

7 VII TABLE OF CONTENTS Preface Chapter I GENERAL ASPECTS OF HEREDITARY FACTORS IN ONCOLOGY Chapter II FAMILIAL MEDULLOBLASTOMA General aspects of medulloblastoma Familial aspects of medulloblastoma Chapter III FAMILIAL MENINGIOMA General aspects of meningioma Familial aspects of meningioma Chapter IV FAMILIAL CHOROID PLEXUS PAPILLOMA General aspects of choroid plexus papilloma Familial aspects of choroid plexus papilloma

8 VIII Chapter V FAMILIAL CEREBRAL FIBROSARCOMA General aspects of cerebral fibrosarcoma Familial aspects of cerebral fibrosarcoma Chapter VI FAMILIAL PINEALOMA General aspects of pinealoma Familial aspects of pinealoma Chapter VII FAMILIAL GLIOMA General aspects of glioma Familial aspects of glioma

9 IX Preface Heredity, environment, the role of infectious agents, and other influences have been cited within a multiplicity of factors of possible relevance to the problem of neoplasm etiology. In some cases, such as that of retinoblastoma the influence of hereditary factors has been clearly established. The influence of genetic factors in cerebral tumour development has been under discussion since as early as 1896 when Besold reported two sisters suffering from brain tumours. Although much more is now known about the classification, prognosis, and treatment of these tumours, and a number of familial cases have been reported, the present data are insufficient to permit conclusions regarding the influence of hereditary factors in the etiology of most types of cerebral neoplasms, and research in this area is urgently required. Research on familial brain tumours must still be largely based upon the cumulative case histories which have been reported. Although a number of papers contain historical reviews, some in tabulated form, the actual data have not been readily available to the researcher, each investigator being obliged to compile anew all reports published on the subject over an 80 year period. This book represents an attempt by the present authors to assemble the pertinent data on individual cases of familial brain tumours published since For this purpose the essential information from the original articles in German, French, Dutch, Spanish, Italian, Polish, and Czechoslovakian have been translated into English. Exact quotations from reports in the English language have been presented here in italics to facilitate the flow of reading of the material. Relevant material relating to the original reports, i.e. reproductions of anatomical specimens, pedigrees, et cetera have been reproduced where possible. The surname of the first author, the author's location, and the year of publication have been used as a reference heading for each case report. If not specified, the nationality of the patient has been assumed to be in conformity with that of the country of publication. Special attention has been given to the presence or absence of data providing validation of the diagnosis in each case. This, as well as the available information concerning hereditary influence and other aspects of relevance, has been noted in the case comments. In the description of the case reports and the tables the diagnoses are presented as stated by the authors; in the discussions on

10 x familial aspects they have been adapted, when relevant, to the present classification of the World Health Organization. Where possible, an attempt has been made to supplement existing information by requesting authors of publications to submit additional data (see standard request form as addendum). In this manner a number of new familial cases have been collected from The Netherlands and are published here as personal communications. Six groups of brain tumours have been examined: medulloblastoma, meningioma, choroid plexus papilloma, cerebral fibrosarcoma, pinealoma, and glioma. The reports on familial occurrence have been subdivided into brain tumours occurring in twins, siblings, and more than one generation. The reports were designated as concordant when the brain tumours in relatives were verified histologically or at autopsy. Cases not meeting these criteria were regarded as discordant. In each chapter a short summary of the general aspects of the involved tumour group has been given, without pretence of being complete, intended for the more generally interested reader in the fields of neurology, neurosurgery, oncology, and genetics. An introductory chapter on general hereditary factors in oncology has been provided by Professor F.J. Cleton. This book does not lead to definite conclusions as to the validity of a genetic basis for the occurrence of brain tumours. Its main purpose has been to constitute a body of actual knowledge concerning cases in which familial occurrence was noted and therefore it must be essentially regarded as a working tool for research. The present data do seem to indicate promising results for future studies of genetic influence in the etiology of glioma. Compilation of further reports will be required before a sufficient amount of information is available to support evaluative attempts in regard to these or other neoplasms. For this reason a permanent International Register of Familial Brain Tumours (IRFBT) is to be established in the Comprehensive Cancer Centre in Leyden*. The IRFBT will be engaged in the active search for newly published cases of familial brain tumours and will invite clinicians worldwide to submit cases to this register. Care will be taken to update the register at appropriate times. The project executor for this book was C.C. Tijssen, M.D., with the assistance of M.R. Halprin, M.D., who also wrote the chapters on cerebral fibrosarcoma and pinealoma and was responsible for the English language supervision, and L.J. Endtz, M.D., responsible for general supervision and editing. * Address Comprehensive Cancer Centre: Vondellaan 47, 2332 AA Leyden, The Netherlands

11 XI Acknowledgements The authors would like to express their gratitude to a number of persons for their invaluable assistance and contributions: Professor F.J. Cleton, M.D., medical oncologist at the University of Leyden, for writing an introductory chapter on general aspects of hereditary factors in oncology; Professor G.T.A.M. Bots, M.D., neuropathologist at the University of Leyden, for permission to use his photographs of macroscopic and microscopic preparations; R.E.M. Hekster, M.D., neuroradiologist at the Municipal Hospitals of The Hague, for selecting and providing the computerized tomography (made with a General Electric CT/T 8800 scanner); J. te Velde, M.D., pathologist at the Municipal Hospitals of The Hague, for his critical reading of the general aspects; C. Fortgens, medical physicist, for assisting in the statistical evaluation. We are indebted to our colleagues of the neurological department for the cooperation that made the realization of this book possible. Some of the case reports have been illustrated by use of the original material. We thank the authors concerned for their permission in the use of these photographs. Technical assistance was given by C.Th. Ruygrock and C.A. van Beek in the preparation of the photographs, and by C.H. Bootsma and A.R. Rensen in the drawing of the pedigrees. Our special thanks to Mrs. A.M. Henkus. The preparation of this book would not have been possible without her efficient and conscientious secretarial assistance. Mrs. J.E.M. Mol assisted in typing the references. We would also like to express our gratitude to the staff of Martinus Nijhoff Publishers for their patient and supportive literary collaboration. This work was supported by a grant from the Queen Wilhelmina Cancer Foundation.